Manejo odontológico en paciente con síndrome de Cornelia de Lange / Dental treatment of a patient with Cornelia de Lange syndrome

El síndrome de Cornelia de Lange (SCdL) es un trastorno genético poco frecuente y se atribuye principalmente a mutaciones en los genes NIPBL, SMC3 y SMC1A. Sus principales características clínicas son múltiples anomalías congénitas, dimorfismo facial, hirsutismo, hipertricosis, retraso psicomotor, discapacidad intelectual, restricción del crecimiento prenatal y postnatal, anomalías de manos y pies, así como malformaciones congénitas que afectan a distintos órganos. En pacientes con SCdL es necesario hacer hincapié en la higiene oral debido a la discapacidad intelectual que puede presentarse y asegurarse de que se realiza una adecuada valoración y saneamiento dental de forma periódica con el fin de prevenir enfermedades bucodentales. El objetivo de este reporte de caso es describir el manejo odontológico de un paciente de 10 años con SCdL y revisar las características clínicas y hallazgos radiológicos presentes en la cavidad oral (AU)

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder and is principally attributed to mutations in the NIPBL, SMC3 and SMC1A genes. The main clinical characteristics are multiple congenital anomalies, facial dimorphism, hirsutism, hypertrichosis, psychomotor retardation, intellectual disability, prenatal and postnatal growth restriction, hand and foot anomalies, as well as congenital malformations affecting different organs. In patients with CDLS, it is necessary to focus on oral hygiene due to the intellectual disability that may be present and to ensure that adequate dental valuation and hygiene is routinely performed in order to prevent oral diseases. The aim of this case report is to describe the dental management of a 10-year-old patient with CDLS and review the clinical characteristics and radiological findings that are present in the oral cavity (AU)

Clinical characteristics and gene analysis of SMC1A gene related disorders / 中华神经科杂志

Objective:To analyze the clinical characteristics and genetic features of SMC1A gene related disorders. Methods:The data of 5 children with SMC1A gene variants were collected from Children′s Hospital of Fudan University from February 2018 to January 2022. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results:Among the 5 patients, 4 are females and 1 is male. Two female cases are siblings. One boy had dysmorphic features, consisting of bilateral ptosis, synophrys, a short nose and upturned nasal tip. He also had patent foramen ovale plus atrial septal defect, unilateral cryptorchidism and microcephaly. Three cases had microcephaly. Two girls had patent foramen ovale, and 2 girls had microcephaly. Four cases had epilepsy, and age at seizure onset ranged from 2 to 52 months. Multiple seizure types were observed, including bilateral tonic clonic seizures in 2 patients, and focal seizures in 3 patients. The seizures in 3 cases were in cluster. All patients had developmental delay, including 1 patient with mild and 4 patients with moderate to severe developmental delay. Three patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 4 patients, including focal discharges in 3 cases and generalized discharges in 1 case. Brain magnetic resonance imaging was normal in 3 patients and showed mild cortical thickening in 1 case. All cases harbored 4 SMC1A gene variants, including 2 missense variants and 2 frameshift variants (c.580_587del, c.2699delG, c.3362G>A, c.1486C>T). Three cases harbored heterozygous SMC1A variants and 2 cases carried somatic mosaic SMC1A variants with 17.5% and 88.1% mosaicism in peripheral blood. The follow-up lasted for 3 months to 4 years. The epilepsy was refractory in 2 cases. During the follow-up, all cases had very slow developmental progress or developmental retardation. All cases had different levels of growth retardation. The scores of Cornelia de Lange syndrome (CdLS) phenotypes in 5 cases were 2-6. One case had the combined phenotypes of atypical CdLS and developmental epileptic encephalopathy (DEE). The phenotype was atypical CdLS in 1 case and DEE in 1 case. The phenotypes of 2 cases with SMC1A missense variants were mild, manifesting as non-refractory epilepsy and moderate to severe developmental delay. Conclusions:All of cases with SMC1A gene variants have developmental delay. Most of the patients have clusters of seizures and some dysmorphisms. The phenotypes of SMC1A gene related disorders are diverse. Except CdLS and DEE, there are some patients with mild phenotype due to missense variants of SMC1A gene.

Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review / Perfil audiológico de indivíduos com síndrome de Cornelia de Lange: revisão integrativa da literatura

ABSTRACT Purpose: to describe the audiological profile of patients with Cornelia de Lange syndrome (CdLS) in an integrative review of the literature. Methods: after developing the research question, articles were searched in six databases (EMBASE, ISI of Knowledge, LILACS, MEDLINE/PubMed, SciELO, and Scopus) and in sources of information (Google Scholar, OpenGrey, and ProQuest), with the following descriptors: audiology, hearing loss, deafness, hearing disorders, and Cornelia de Lange syndrome. This review was registered in Prospero under number CRD42020191481. National and international studies were considered for analysis, using the PECO acronym. The risk of bias in the studies was analyzed with Joanna Briggs Institute protocols. Then, the studies were described and analyzed. Results: of the 1,080 articles found, 12 met the inclusion criteria. Audiological results showed that individuals with CdLS can have hearing loss - conductive hearing losses were the most frequent impairments, corresponding to 49.20% of individuals with CdLS assessed, followed by sensorineural hearing losses (13.49%). The degrees of hearing loss ranged from mild to profound. Conclusion: individuals presented with CdLS often have hearing loss, mainly due to middle ear changes, with degrees ranging from mild to profound.

RESUMO Objetivo: descrever o perfil audiológico de pacientes com Síndrome de Cornelia de Lange (SCdL), por meio de uma revisão integrativa da literatura. Métodos: após formulação da pergunta, realizou-se uma busca em seis bases de dados (Embase, ISI of Knowledge, Lilacs, Medline/PubMed, Scielo e Scopus), e fontes de informação (Google Acadêmico, OpenGrey e Proquest), com os descritores: audiologia, perda auditiva, surdez, transtornos da audição e Síndrome de Cornelia de Lange. Esta revisão foi cadastrada no Próspero, sob número CRD42020191481. Foram considerados para análise, estudos nacionais e internacionais, utilizando o direcionamento do acrônimo PECO. Para análise do risco de viés dos estudos, utilizou-se os protocolos do Instituto Joanna Briggs. Após isso, os estudos foram descritos e analisados. Resultados: dos 1.080 artigos encontrados, 12 atenderam aos critérios de inclusão. Nos resultados audiológicos, constatou-se que indivíduos com SCdL podem apresentar perda auditiva, sendo que o comprometimento pela perda auditiva condutiva foi o mais frequente, correspondendo a 49,20% dos indivíduos com SCdL avaliados, seguido pela perda auditiva neurossensorial (13,49%). O grau de perda auditiva variou de leve à profundo. Conclusão: indivíduos com SCdL frequentemente apresentam perda auditiva, decorrente principalmente de alterações de orelha média, com graus variando de leve a profundo.

Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência / Cornelia de Lange syndrome: analysis of a series of 33 patients in an excellence center

Introdução: A Síndrome de Cornelia de Lange (CdLS) (OMIM: 122470) é uma doença genética rara com quadro clínico e fenótipo variáveis, compreendendo um grupo de doenças denominado coesinopatias. Entre suas principais características: deficiência intelectual (DI), baixa estatura, doença do refluxo gastroesofágico (DRGE), hipertricose, dismorfismos faciais e anomalias em membros superiores. O diagnóstico pode ser dificultado nos quadros atenuados. O objetivo do estudo foi determinar os principais achados clínicos e moleculares em uma série de pacientes com o diagnóstico clínico de CdLS.Métodos: Foram avaliados 33 pacientes com diagnóstico clínico e/ou molecular de CdLS (18 sexo feminino e 15 masculino) com idades entre 1 mês e 43 anos. Aplicou-se um escore clínico visando a categorização dos pacientes baseado em Kline et al. (2018). Esta ferramenta utiliza sinais clínicos para determinar as formas clássicas (n: 23), não clássicas (n: 6) e os casos que, apesar de não se enquadrarem nestas categoriais, também deveriam ser testados molecularmente para a síndrome (n: 4).Resultados: Atraso do desenvolvimento/DI, distúrbios de comportamento, déficit de crescimento e DRGE foram as comorbidades mais prevalentes. Entre as dismorfias: sinofris, micrognatia, narinas antevertidas e comissura labial desviada para baixo. Os achados moleculares nos pacientes submetidos ao sequenciamento completo do exoma revelaram 6 variantes em NIPBL (46%), 2 variantes em SMC1A (15%), 1 variante em SMC3, 1 variante em HDAC8, 1 variante em AHDC1 e 2 resultados negativos.Conclusões: Os dados obtidos revelaram uma grande heterogeneidade de apresentação da síndrome. A utilização de escores clínicos podem auxiliar no diagnóstico de CdLS.

Introduction: Cornelia de Lange syndrome (CdLS) (OMIM: 122470) is a rare genetic disease with variable clinical presentation and phenotype, part of a group of disorders termed cohesinopathies. Intellectual disability, growth retardation, gastroesophageal reflux disease, hypertrichosis, facial dysmorphisms, and anomalies of the upper limbs are the most common clinical characteristics. Diagnosis may be difficult, especially in attenuated presentations. The aim of this study was to determine the main clinical and molecular findings in a series of patients with clinical diagnosis of CdLS.Methods: Thirty-three patients with typical clinical and/or molecular diagnosis of CdLS (18 female and 15 male) aged between 1 month and 43 years were evaluated. A clinical score was applied to categorize patients. This tool uses clinical signs to determine the classic (n: 23) and nonclassic (n: 6) forms, in addition to a category to suggest which cases should be molecularly tested for the syndrome (n: 4).Results: Developmental delay/intellectual disability, behavioral disorders, growth retardation, and gastroesophageal reflux disease were the most prevalent comorbidities. Dysmorphic features included synophrys micrognathia, anteverted nostrils, and labial commissure turning downwards. Molecular findings in those who underwent whole exome sequencing revealed 6 variants in NIPBL (46%), 2 variants in SMC1A (15%), 1 variant in SMC3, 1 variant in HDAC8, 1 variant in AHDC1, and 2 negative results.Conclusions: The data revealed a great heterogeneity in the presentation of the syndrome. The use of clinical scores can help in the diagnosis of CdLS.

Síndrome de Cornelia de Lange y su relación con la erupción dentaria: análisis caso clínico / Analisar o caso de um paciente com síndrome de Cornelia de Lange e sua relação com la erupção dentária / Dental eruption aspects of Cornelia de Lange syndrome: case report

El Síndrome de Cornelia de Lange (SCDL), es una anomalía genética cuya prevalencia es de 1:62.000- 1:45.000 de los nacimientos. Se atribuye principalmente a mutaciones en los genes NIPBL, SMC3 y SMC1A. Se caracteriza por presentar alteraciones físicas generales, alteración cognitiva y del lenguaje; y rasgos orofaciales como la sinofridia, hirsutismo, también existe maloclusión, retardo de la erupción, apiñamiento, anodoncia, malformación de las extremidades, retraso del desarrollo pre y postnatal y otras malformaciones congénitas. Objetivo: Analizar el caso de paciente con síndrome de Cornelia de Lange y su relación con algunos hallazgos reportados en la literatura especialmente la erupción dentaria. Se presenta paciente lactante femenina de 2 años y 5 meses, procedente de Valencia, con diagnóstico genético de Síndrome de Cornelia de Lange, plumbemia, y litiasis biliar, que acude a la consulta del Postgrado de Odontopediatría de la Universidad de Carabobo por presentar retardo en la erupción dentaria. Se realiza historia clínica, examen clínico general donde se observa retraso psicomotor, del lenguaje y características fenotípicas propias del síndrome. A la evaluación clínica intrabucal se observa rebordes gingivales con inserción normal de frenillos y ausencia de unidades dentarias (retardo de erupción). La erupción dentaria puede verse afectada en pacientes con diagnóstico de Síndrome de Cornelia de Lange, tanto en su cronología como en la secuencia de erupción.

A síndrome de Cornelia de Lange (SCDL) é uma anormalidade genética com prevalência de 1: 62.000-1: 45.000 de nascimentos. É atribuído principalmente a mutações nos genes NIPBL, SMC3 e SMC1A. Caracteriza-se por apresentar alterações físicas gerais, alteração cognitiva e de linguagem; e características orofaciais, como sinofrídios, hirsutismo, também há má oclusão, erupção retardada, aglomeração, anodontia, malformação de membros, atraso no desenvolvimento pré-natal e pós-natal e outras malformações congênitas. Objetivo: Analisar o caso de um paciente com síndrome de Cornelia de Lange e sua relação com alguns achados relatados na literatura, principalmente erupção dentária. Apresentamos uma paciente de enfermagem de Valência com 2 anos e 5 meses de idade, com diagnóstico genético da síndrome de Cornelia de Lange, plumbemia e litíase biliar, que compareceu à consulta de pós-graduação em Odontopediatria da Universidade de Carabobo por apresentar atraso erupção dentária. História clínica, exame clínico geral, onde são observados retardo psicomotor, linguagem e características fenotípicas da síndrome. Uma avaliação clínica intraoral mostra sulcos gengivais com inserção normal de aparelho e ausência de unidades dentárias (erupção tardia). A erupção dentária pode ser afetada em pacientes diagnosticados com Síndrome de Cornelia de Lange, tanto na cronologia quanto na sequência da erupção.

Cornelia de Lange Syndrome (SCDL) is a genetic abnormality with a prevalence of 1: 62,000- 1: 45,000 of births. It is mainly attributed to mutations in the NIPBL, SMC3 and SMC1A genes. It is characterized by presenting general physical alterations, cognitive and language alteration; and orofacial features such as sinofridia, hirsutism, there is also malocclusion, delayed eruption, crowding, anodontia, limb malformation, prenatal and postnatal developmental delay, and other congenital malformations. Objective: To analyze the case of a patient with Cornelia de Lange syndrome and its relationship with some findings reported in the literature, especially dental eruption. We present a 2-year-old and 5-month-old female nursing patient from Valencia with a genetic diagnosis of Cornelia de Lange Syndrome, plumbemia, and biliary lithiasis, who attended the Pediatric Dentistry Postgraduate consultation at the University of Carabobo for presenting delay in tooth eruption. Clinical history, general clinical examination where psychomotor retardation, language and phenotypic characteristics of the syndrome are observed. A clinical intraoral evaluation shows gingival ridges with normal insertion of braces and absence of dental units (delayed eruption). The dental eruption can be affected in patients diagnosed with Cornelia de Lange Syndrome, both in its chronology and in the eruption sequence.

Cornelia de Lange syndrome with recurrent seizures and SMC1A gene c. 2923C > T mutation: a case report and literature review / 中华实用儿科临床杂志

Objective:To explore the characteristics, clinical manifestations and gene mutation types of Cornelia de Lange syndrome (CdLs), and to improve the understanding of the disease.Methods:Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results:A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose, a wide eye distance, audition ears, a downward inclination of the mouth corner, a high arch of the jaw and a small jaw deformity, who had recurrent seizures, speech and mental retardation.The result of gene test showed the mutation of SMC1A gene c. 2923C > T, and thus the patient was diagnosed as type 2 CdLs. Conclusions:CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of SMC1A in China through literature review.The mutation of SMC1A gene c. 2923C>T in CdLs cases has not been reported at home and abroad, which expands the variation spectrum of the SMC1A gene.

A Rare Case of Cornelia de Lange Syndrome Achieving Intracardiac Repair of Tetralogy of Fallot Following Ectopic Patent Ductus Arteriosus Banding / 日本心臓血管外科学会雑誌

We describe the case of a 1-year and 7-month-old girl who was born at 36 weeks and 6 days of pregnancy weighing 1,351 g. In addition to the diagnosis of Cornelia de Lange syndrome and Tetralogy of Fallot, we confirmed shunt blood flow from the lesser curvature of the aortic arch to the main pulmonary artery. Thus, we additionally diagnosed ectopic patent ductus arteriosus (PDA). Ultrasonography showed interruption and retrograde flow of the diastolic blood flow in the anterior cerebral artery. Therefore, we made a diagnosis of blood stealing due to an ectopic PDA, and we performed surgical intervention via a median sternotomy at 25 days. When we ligated the shunt blood vessel, the percutaneous oxygen saturation decreased from the high 90% range to the low 70% range, thus we temporarily released the ligation. We narrowed the ectopic PDA so that the percutaneous oxygen saturation could be maintained the high 80% range. Postoperative ultrasonography showed improvement of the pressure waveform in the anterior cerebral artery. After discharge, oxygen demand increased gradually with weight gain, and we performed intracardiac repair using a monocusp valve patch at 1 year and 7 months. We report a rare case of Cornelia de Lange syndrome wherein we achieved intracardiac repair of Tetralogy of Fallot after ectopic PDA banding in the neonatal period.

Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome / 中华医学遗传学杂志

Objective@#To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities.@*Methods@#Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Suspected mutation was verified by PCR and Sanger sequencing.@*Results@#A novel heterozygous nonsense mutation, c. 2521C>T(p.R841X), was identified in the NIPBL gene. The mutation may cause premature termination of translation of the adhesion protein loading factor at 841st amino acids. The same mutation was not found in her parents and 931 healthy controls, and was absent from public databases including ExAC and 1000G. Bioinformatic analysis suggested the mutation to be disease causing.@*Conclusion@#The c. 2521C>T (p.R841X) mutation of the NIPBL gene probably underlies the Cornelia De Lange syndrome in the infant. Prenatal diagnosis may be provided to this family upon their subsequent pregnancy.

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome / 영남의대학술지

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

A successful dental management in a child with Cornelia de Lange Syndrome: rare case of Cornelia de Lange Syndrome in child / O sucesso do manejo odontológico em criança com Síndrome Cornelia de Lange: um caso raro da Síndrome Cornelia de Lange em criança

Background: the Cornelia de Lange Syndrome (CDLs) is a rare and complex syndrome characterized, basically, by psychomotor retardation associated with a number of congenital malformations. Aims: this paper reports the case of an 11-year-old female child diagnosed with Cornelia de Lange Syndrome (CdLS) and her successful dental management. Case report: the patient had severe mental retardation, definite negative behavior and the clinical findings included oral and physical changes. The patient's oral hygiene was deficient with the presence of calculus and gingivitis, besides several active caries lesions in permanent and deciduous dental elements. The treatment consisted in guidance for caregivers about oral hygiene and diet, and the dental procedures were performed under general anesthesia. Currently, the patient is accompanied by monthly follow-ups. Conclusions: the lack of knowledge about oral hygiene and cariogenic diets was identified as a one of the reasons for the oral diseases present. Due to the need to care for the other more serious and complex health problems, the oral diseases had evolved faster than usual and thus were difficult to treat and maintain thereafter. Under such conditions, the dentist plays a key role within a multidisciplinary team. From the guidance and knowledge provided in the dental clinic, there was a significant improvement in the life quality of the child and her family

Síndrome de Cornélia de Lange e Doença de Graves: uma associação rara / Cornelia de Lange Syndrom and Graves disease: a rare association

Introdução: A síndrome de Cornelia de Lange (SCdL) corresponde a uma condição rara caracterizada por mutações nos genes responsáveis pelas proteínas estruturais e reguladoras do complexo da coesina, levando o paciente à distrofia facial e aos atrasos no crescimento e desenvolvimento. Seu diagnóstico é baseado nos achados clínicos e/ou a identificação da heterozigose patogênica variante em N1PBL, RAD21, ou SMC3 ou homozigose patogênica variante em HDAC8 ou SMC1A. Essa síndrome possui um amplo espectro de manifestações que incluem anormalidades neurológicas, endocrinológicas, musculoesqueléticas e cutâneas. A Doença de Graves, por sua vez, representa o expoente mais comum de hipertireodismo, possui origem autoimune e resulta de uma complexa interação entre fatores genéticos e ambientais. Relato de caso: Este artigo tem por objetivo relatar um caso de uma paciente de 22 anos com diagnóstico de SCdL, a qual abriu o quadro de hipertireoidismo por Doença de Graves, apresentando insônia, irritabilidade e agitação, com melhora após tratamento medicamentoso.

Introduction: The Cornelia de Lange syndrome is a rare condition characterized by mutations in genes responsible for structural and regulatory proteins of the coesin complex, causing facial dystrophy, delays in development and growth. Your Diagnosis is based on clinical findings and/or the identification of a heterozygous pathogenic variant in NIPBL, RAD21 and SMC3 or a hemizyous pathogenic variant in HDAC8 or SMC1A. This syndrome has a wide spectrum of manifestations that includes neurological, endocrinological, muscle-skeletal and cutaneous abnormalities. Graves' disease, in turn, represents the most common etiology of hyperthyroidism; it has an autoimmune origin and results from a complex interaction between genetic and environmental factors. Case report: Therefore, the current study aims to report a case of a 22-year-old female with diagnosis of Graves' disease, presenting insomnia, irritability and restlessness with improvement after drug treatment.

Diagnostico prenatal en Sindrome de Cornelia de Lange a propósito de 2 casos / Prenatal diagnosis in Cornelia de Lange syndrome in 2 cases

RESUMEN El Síndrome de Cornelia de Lange (SCdL) es un trastorno hereditario del desarrollo con transmisión dominante, aunque la mayoría de los casos son esporádicos. La prevalencia es variable oscilando entre 1/10.000-1/100.000 nacimientos. Se caracteriza por un fenotipo facial distintivo, anomalías en las extremidades superiores y retraso del crecimiento y psicomotor. El diagnóstico prenatal de este síndrome está limitado a la detección de anomalías mayores, ya que los rasgos fenotípicos distintivos del mismo no son fácilmente detectables. Suele cursar con aumento de la translucencia nucal, higroma quístico y valores de PAPP-A bajos en el primer trimestre de la gestación; retraso del crecimiento intrauterino, retromicrognatia, anomalías con grado variable de severidad de las extremidades superiores y otras anomalías cardiovasculares, gastrointestinales o genitourinarias que condicionan el pronóstico fetal. Se presentan los hallazgos ecográficos de dos casos con sospecha de afectación por el SCdL, y la correlación entre los mismos y los hallazgos en la necropsia. Al establecer la sospecha diagnóstica de forma retrospectiva, en los casos presentados no fue posible estudiar la presencia de mutaciones genéticas asociadas con el SCdL. A pesar de los avances en el diagnóstico genético de este síndrome, la base genética del mismo es todavía desconocida en alrededor del 30% de los pacientes, lo que sugiere la contribución de otros genes y/o factores ambientales en su etiología.

ABSTRACT Cornelia de Lange Syndrome (CdLS) is an hereditary developmental disorder with dominant condition, although most cases are sporadic. The prevalence is variable ranging from 1/10,000 to 1/100,000 live births. It is characterized by a distinct facial phenotype, upper limb abnormalities, growth retardation and severe mental retardation. Prenatal diagnosis of this syndrome is limited to detecting major abnormalities, since characteristic facial features aren't easily detectable. Is usually associated with increased nuchal translucency, cystic hygroma and low PAPP- A levels in first trimester of pregnancy; intrauterine growth retardation, retromicrognathia, anomalies with varying degrees of severity of upper limbs and other cardiovascular, gastrointestinal or genitourinary abnormalities that affect fetal prognosis. The sonographic findings of two cases with suspected involvement by CdLS, and the correlation between them and necropsy findings are presented. Since the suspected diagnosis was established retrospectively in the presented cases, it wasn't possible to study the association with CdLS gene mutations. Despite advances in genetic diagnosis of this syndrome, the genetic basis of it still unknown in about 30% of patients, suggesting the contribution of other genes and/or environmental factors in its etiology.

Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome / 영남의대학술지

Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway. The GlideScope video laryngoscope can be attempted during routine intubation, however it is mostly used in case of difficulty. With adequate preoperative airway assessment, we used the pediatric video laryngoscope as useful alternative airway device in a child with CdLS and orotracheal intubation proceeded uneventfully.

Síndrome de cornelia de lange a propósito de un caso / Cornelia de lange syndrome on the basis of a case

El Síndrome de Cornelia de Lange (SCdL) es un trastorno del desarrollo hereditario con transmisión dominante que se caracteriza por un fenotipo facial distintivo, anomalías en extremidades superiores y retraso del crecimiento y psicomotor. Fue descrito por primera vez en el año 1933 por la Dra. Cornelia de Lange en dos niñas. Clínicamente se distinguen tres fenotipos el grave, el moderado, y el leve. La prevalencia es variable según los estudios publicados, oscilando entre 1:62.000- 1:45.000 nacimientos. Aunque la mayoría de los casos son esporádicos existen casos familiares con un patrón de herencia dominante, incluyendo casos con mosaicismo germinal. En el año 2004 se describió el primer gen asociado al SCdL, denominado NIPBL, y posteriormente se identificaron dos genes más, el SMC1A y el SMC3. Todos ellos tienen en común el codificar proteínas implicadas en el Complejo de Cohesinas, y han dado lugar a un nuevo tipo de enfermedades denominadas "Cohesinopatías" que por el momento incluyen al SCdL y al Síndrome de Roberts/SC focomelia. El objetivo de este estudio es informar las características clínicas y el estudio genético de 1 caso de CdLS en Hospital General Docente de Calderón.

Cornelia de Lange Syndrome (SCdL) is an hereditary development disorder with dominant transmission characterized by a distinctive facial phenotype, anomalies in upper limbs and growth retardation and psychomotor. It was first described in 1933 by Dr. Cornelia de Lange in two girls. Clinically, three phenotypes are distinguished: severe, moderate, and mild. The prevalence is variable according to published studies, ranging from 1: 62,000- 1: 45,000 births. Although most cases are sporadic, there are familial cases with a dominant inheritance pattern, including cases with germinal mosaicism. In 2004, the first gene associated with SCdL was described, called NIPBL, and subsequently two genes were identified, SMC1A and SMC3. All of them have in common the coding of proteins involved in the Cohesin Complex, and have given rise to a new type of diseases called "Cohesinopathies" that for the moment include the SCdL and the Roberts Syndrome / SC phocomelia The objective of this study is to report the clinical characteristics and genetic study of 1 CdLS case from Hospital General Docente de Calderón

Tratamiento rehabilitador a un paciente con síndrome de Cornelia de Lange / Rehabilitation Treatment to a Patient with Cornelia de Lange Syndrome

Se presentó un paciente de un año de edad con síndrome Cornelia de Lange, único recibido en el Servicio de Rehabilitación del Policlínico Docente René Vallejo Ortiz del municipio Manzanillo, provincia Granma, con signos evidentes de retraso del desarrollo psicomotor, remitido al servicio por su médico de familia cuando tenía seis meses de nacido. Para su tratamiento se emplearon técnicas específicas de la estimulación temprana, se lograron pequeños avances en su desarrollo motor y cognitivo, aunque no solo depende de la rehabilitación, sino también del entorno familiar en el cual se va desarrollando el niño. Se lograron pequeños avances motores en el paciente como: sostén cefálico, abertura de las manos y seguimiento de los objetos con la mirada, el paciente continúa rehabilitándose en el servicio de fisiatría.

A one -year-old patient with Cornelia de Lange syndrome (SCdL) was presented in this article, who was the only one attended in the service of rehabilitation of the René Vallejo Ortiz teaching polyclinic of Manzanillo municipality, Granma province. The patient had evident signs of late psychomotor development, so he was referred to this service by the family doctor when he was six months of age. For the treatment, specific techniques of early stimulation were used; small advances have been achieved regarding motor and cognitive development, although it not only depends on the rehabilitation, but also depends on the family environment, in which the infant is developing. Not many motors progresses were achieved in the patient such as: cephalic support, opening of the hands and objects pursuit followed by the eyes. The patient continues rehabilitating in the physiotherapy service.

Síndrome de Cornelia de Lange y deficiencias hormonales pituitáricas múltiples, una asociación inusual: Caso clínico / Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association: Clinical case

El síndrome de Cornelia de Lange es una enfermedad genética caracterizada por rasgos faciales distintivos, falla de medro, microcefalia y varias malformaciones asociadas. Sus principales alteraciones endocrinológicas son las anomalías genitales. Se presenta un adolescente de 13 años, tratado por neumonía aspirativa complicada y que presentaba el fenotipo del síndrome de Cornelia de Lange, que incluía retraso global del desarrollo, trastorno de succión-deglución, talla baja y alteración del desarrollo sexual. Su edad ósea era muy retrasada, por lo que se realizó un estudio endocrinológico completo. Se le diagnosticaron hipotiroidismo central, deficiencia de la hormona de crecimiento y deficiencia de hormona luteotrópica y folículoestimulante, compatibles con el diagnóstico de deficiencias hormonales pituitáricas múltiples. Tuvo cortisol basal, hormona adrenocorticotrópica y prolactina normales. Recibió suplencia hormonal tiroidea. Es inusual la asociación de este síndrome con deficiencias hormonales pituitáricas múltiples. Se sugiere la evaluación de los distintos ejes endócrinos en estos pacientes.

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients.

Genetic analysis of Cornelia de Lange syndrome in one case / 临床儿科杂志

Objective To explore the clinical features and gene mutation types of Cornelia de Lange syndrome (CdLS), an inherited metabolic disease. Methods The clinical data and gene detection results of one case of CdLS were retrospectively analyzed. Results Two-year-old male had special appearance, microcephaly, bushy eyebrows with both sides meeting in the midline, long curly eyelashes, low body mass, and motor and mental retardation. NIPBL gene detection found the variation of the nucleotide in c.7176T>A (nucleotide 7176 in coding region changed from T to A). Conclusions CdLS is a rare congenital inherited metabolic disease. The clinical manifestations were special appearance and signs. The c.7176T>A mutation in NIPBL gene has not been reported at home and abroad.

Síndrome de Cornelia. Presentación de caso de enfermería vinculado a la teoría de Ida Orlando / Cornelia de Lange syndrome. Presentation of a case of nursery related with Ida Orlando theory

En 1933, una pediatra holandesa, la Dra. Cornelia de Lange, describía dos niños con rasgos similares, hoy en día es ella a quien se le reconoce el haber descrito los síntomas que abarcan el síndrome que lleva su nombre. Es un trastorno malformativo múltiple congénito, se determina por sus características faciales en asociación con retraso del crecimiento pre y postnatal, retraso mental de nivel variable, en algunos casos, anomalías de las partes superiores, muchos de los síntomas se pueden mostrar en el nacimiento y a muy temprana edad. El proceso de atención de enfermería, es el método científico de actuación de los profesionales de Enfermería, vinculado a una base teórica que desarrollan habilidades analíticas que aplicadas en la práctica, repercuten en la mejoría de los pacientes. Se realizó este trabajo con el objetivo de presentar un caso poco frecuente del síndrome de Cornelia de Lange, ejecutando el proceso de atención de Enfermería vinculado al modelo teórico de Ida Orlando. Se trató de una paciente de 10 meses de edad, sexo femenino, raza blanca, que ingresó a los dos meses de nacida en la sala de terapia intensiva del Hospital Pediátrico Provincial Eliseo Noel Caamaño, de Matanzas. La vinculación de la teoría de Ida Orlando a este proceso de atención de Enfermería permitió una atención integral al individuo enfermo, y desarrolló las habilidades prácticas de la asistencia de Enfermería, además de fomentar el razonamiento critico en aras de brindar cuidados con calidad y enfoque científico.

In 1933, a Dutch pediatrician, PhD Cornelia de Lange described two children with similar characteristics. Nowadays she is recognized as the one who described the symptoms encompassing the syndrome named after her. It is a congenital multiple malformative disorder, determined by its facial characteristics associated to pre and postnatal grow retardation, mental retardation of variable level, and, in some cases, anomalies of the upper parts. Many of the symptoms appear at birth and at early ages. The process of nursery care is the scientific method ruling Nursery professionals’ performance, related to a theoretical basis and developing analytical skills that, practically applied, strike on patients’ improvement. This work was carried out with the aim of presenting a few frequent case of Cornelia de Lange Syndrome, performing the Nursery care process according to Ida Orlando theoretical model. It deals with female, white, 10-months patient who entered the Intensive Care Service of the Provincial Pediatric Hospital “Eliseo Noel Caamaño”, of Matanzas when she was two months. Relating Ida Rolando’s theory to this Nursery care process allowed the patient’s integral care, and developed the practical skills of Nursery care, besides promoting the critical reasoning for the sake giving a quality and scientifically focused care.

Progress in cornelia de lange syndrome / 国际儿科学杂志

Cornelia de Lange syndrome is a rare congenital disease,which was firstly reported on 1933.It usually causes multiple organs dysplasia.Clinical manifestations include severe growth retardation,cogni-tive impairment,characteristic facial and upper limb defects.With the rapid development of medical science,es-pecially in genetics and molecular biology,much research on the pathogenesis of Cornelia De Lange syndrome has been performed.Herein,we review the progress in this rare disease in recent years.

Cornelia De- Lange Syndrome: A Case Report.

Cornelia de Lange syndrome (CDLS) is a congenital disorder involving skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. Here with, dental management of a case with CDLS syndrome is described.