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Arch. argent. pediatr ; 119(6): e636-e638, dic. 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1353058


El uleritema ofriógenes es un trastorno cutáneo benigno y poco frecuente que se presenta habitualmente en la infancia. Se caracteriza por pápulas foliculares eritematosas y queratósicas en el lateral de las cejas, que con el tiempo suelen evolucionar a alopecia cicatricial. Dicha entidad puede aparecer como manifestación clínica aislada o asociada a varios síndromes congénitos (18p-, Cornelia de Lange, Noonan y Rubinstein- Taybi, entre otros). Presentamos el caso de un paciente de 13 años con síndrome 18p- que consultó por lesiones puntiformes rugosas al tacto y pérdida de pelo en ambas cejas (uleritema ofriógenes), así como por hiperqueratosis pilar en brazos. Esta tríada, conocida como síndrome de Zouboulis, ha sido poco descrita en la literatura. Se considera que el reconocimiento del uleritema ofriógenes es de crucial importancia ya que, ante su presencia, debería realizarse una anamnesis y una exploración física exhaustivas en búsqueda de otras alteraciones que pudieran orientar a la existencia de un trastorno genético subyacente.

Ulerythema ophryogenes is a benign and rare skin disorder commonly presenting in childhood. It is characterized by erythematous and keratotic follicular papules located on the side of the eyebrows, and which over time tends to evolve into scarred alopecia. This entity may appear as an isolated clinical manifestation or associated with several congenital syndromes (18p-, Cornelia de Lange, Noonan, Rubinstein-Taybi, among others). We present a 13-year-old male with 18p- syndrome who consults for rough lesions and hair loss in both eyebrows (ulerythema ophryogenes), as well as for hyperkeatosis pilaris in both arms. This triad, known as Zouboulis syndrome, has been rarely reported in the literature. We consider that the recognition of ulerythema ophryogenes is of crucial importance since, in view of its presence, comprehensive anamnesis and physical examination should be performed in search of other alterations that could guide the existence of an underlying genetic disord

Humans , Male , Adolescent , Chromosome Disorders , Darier Disease , Abnormalities, Multiple , Chromosomes, Human, Pair 18 , Chromosome Deletion , Eyebrows/abnormalities
Article in Chinese | WPRIM | ID: wpr-922026


OBJECTIVE@#To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome.@*METHODS@#Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR).@*RESULTS@#WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping.@*CONCLUSION@#The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.

Abnormalities, Multiple/genetics , Cerebellum/abnormalities , Eye Abnormalities , Female , Genotype , Humans , Kidney Diseases, Cystic , Mutation , Pedigree , Phenotype , Pregnancy , Retina/abnormalities
Article in Chinese | WPRIM | ID: wpr-921956


OBJECTIVE@#To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene.@*METHODS@#Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The proband, a 3-year-and-2-month-old Chinese girl, presented with distinctive facial features, cognitive impairment, mild developmental delay, dermatoglyphic abnormalities, minor skeletal anomalies, ventricular septal defect, and autistic behavior. Trio-based WES revealed that the proband has carried a de novo mosaic frameshit variant of the KMT2D gene, namely NM_003482.3:c.13058delG (p.Pro4353Argfs*31) (GRCh37/hg19), for which the mosaicism rate was close to 21%. The variant was unreported previously and was confirmed by Sanger sequencing. Chromosomal microarray analysis (CMA) has revealed no pathogenic or likely pathogenic copy number variations. Compared with previously reported cases, our patient has presented obvious behavior anomalies including autism, anxiety and sleep problems, which were rarely reported.@*CONCLUSION@#This study has expanded the spectrum of KMT2D gene variants, enriched the clinical phenotypes of KS1, and facilitated genetic counseling for the family.

Abnormalities, Multiple , China , DNA Copy Number Variations , DNA-Binding Proteins/genetics , Face/abnormalities , Female , Hematologic Diseases , Humans , Infant , Neoplasm Proteins/genetics , Phenotype , Vestibular Diseases
Article in Chinese | WPRIM | ID: wpr-921951


OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.

Abnormalities, Multiple/genetics , Cerebellum/diagnostic imaging , Eye Abnormalities/genetics , Female , Fetus , Humans , Kidney Diseases, Cystic , Mutation , Phenotype , Pregnancy , Retina/abnormalities
Article in Chinese | WPRIM | ID: wpr-888387


OBJECTIVE@#Clinical examination and molecular genetic analysis were carried out for one case with special facial features with developmental retardation, hearing impairment and cleft lip and palate.@*METHODS@#The intelligence test, hearing test, and MRI test were performed. At the same time, the blood were collected to detect the copy number variation of the whole genome with the chromosomal karyotype analysis and the chromosomal microarray analysis (CMA). And the whole exome sequencing (WES) was used to analyze the pathogenic variant.@*RESULTS@#The children had mild mental retardation and the IQ was 61. There was moderate hearing loss in both ears(left ear 60 dB, right ear 65 dB). And bilateral horizontal hypoplasia of semicircular canal was found by cranial MRI test. No copy number abnormality was found by chromosome karyotype analysis and chromosome microarray analysis in peripheral blood. And whole exome sequencing suggested that there was heterozygous pathogenic variants in KMT2D gene (p.Leu545Argfs*385).@*CONCLUSION@#The patient has a peculiar face and multiple system defects, and was diagnosed as Niikawa-Kuroki syndrome type I by KMT2D gene variant. The whole exome sequencing is helpful for the diagnosis of complex genetic diseases.

Abnormalities, Multiple , Child , Cleft Lip , Cleft Palate , DNA Copy Number Variations , Face/abnormalities , Hematologic Diseases , Humans , Vestibular Diseases
Article in Chinese | WPRIM | ID: wpr-888374


OBJECTIVE@#To explore the genetic basis of a child with recurrent infection, multiple malformation and dysmorphism.@*METHODS@#The child and his parents were subjected to trio whole exome sequencing.@*RESULTS@#The child had a complaint of fever and cough, with long and thin eye fissures and long eyelashes. Genetic testing revealed that the child has carried a non-triplet deletion of the KDM6A gene, which was unreported previously. The variant resulted in frameshift and premature termination of the translation. His parents were both of the wild type for the locus. After antibiotic and immunoglobulin treatment, the severe secondary pneumonia caused by immunodeficiency has improved.@*CONCLUSION@#With combined laboratory test, imaging examination and genetic testing, the child was ultimately diagnosed with Kabuki syndrome type 2. The characteristics of immunodeficiency of Kabuki syndrome may render conventional antibiotic treatment ineffective, which deserves clinical attention.

Abnormalities, Multiple , Child , DNA-Binding Proteins/genetics , Face/abnormalities , Genetic Testing , Hematologic Diseases , Histone Demethylases/genetics , Humans , Neoplasm Proteins/genetics , Nuclear Proteins/genetics , Phenotype , Pneumonia , Vestibular Diseases
Article in Chinese | WPRIM | ID: wpr-888370


OBJECTIVE@#To explore gender difference in the clinical manifestations of two children with Keishi-Bukuryo-Gan syndrome (KBGS).@*METHODS@#Clinical manifestations of the two children were reviewed. Genetic testing was carried out through next generation sequencing (NGS). Treatment was summarized, and the prognosis was followed up.@*RESULTS@#Both children showed particular appearance including megatooth, abnormal hair distribution, hands' abnormality and language development delay. NGS revealed that both children have carried pathogenic variants of the ANKRD11 gene (c.1903_1907del and c.4911delT), which resulted in shifting of amino acid sequences starting from the Lysine and Proline at positions 635 and 1638, respectively. The female patient exhibited central precocious puberty. Her height has increased by 13 cm, and sex characteristics has retracted after treatment with leuprorelin for 23 months and recombinant human growth hormone for 1 month.@*CONCLUSION@#Comparison of the two cases with different genders and summary of previously reported cases found that male KBGS patients have more obvious dysmorphisms such as triangular face, synophrys, ocular hypertelorism and vertebral body abnormality, with higher morbidity of epilepsy, mental retardation, autism, congenital heart disease, immune thrombocytopenia and other complications. KBGS is an autosomal dominant disease featuring more evident peculiar appearance and global development delay. Male patients often have multi-system involvement, and multidisciplinary cooperation is required for early recognition of particular features in order to improve the prognosis.

Abnormalities, Multiple , Bone Diseases, Developmental , Child , Facies , Female , Humans , Intellectual Disability , Male , Phenotype , Repressor Proteins/genetics , Sex Characteristics , Tooth Abnormalities
Article in English | WPRIM | ID: wpr-880678


Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.

Abnormalities, Multiple , Child , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Humans , Mutation , Proto-Oncogene Proteins B-raf/genetics
Article in Chinese | WPRIM | ID: wpr-879540


OBJECTIVE@#To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity.@*METHODS@#Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents.@*RESULTS@#WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3).@*CONCLUSION@#The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.

Abnormalities, Multiple/genetics , Child , Histone-Lysine N-Methyltransferase/genetics , Humans , Intellectual Disability/genetics , Male , Myeloid-Lymphoid Leukemia Protein/genetics , Syndrome
Rev. chil. pediatr ; 91(5): 732-742, oct. 2020. tab
Article in Spanish | LILACS | ID: biblio-1144272


INTRODUCCIÓN: El Síndrome de Down se presenta en 2,5 de 1.000 recién nacidos vivos chilenos. Presentan más anomalías congénitas y comorbilidades que la población general, aumentando su tasa de hospitalización. OBJETIVO: Describir las anomalías congénitas y comorbilidades de neonatos con Síndrome de Down nacidos y/u hospitalizados en la década 2008-2018. PACIENTES Y MÉTODO: Retrospectiva mente se revisaron registros de los pacientes nacidos y/u hospitalizados dentro de sus 28 días de vida entre el 1 de enero de 2008 y el 31 de diciembre de 2018. Para cada paciente se consignó: edad materna, antecedentes familiares de Síndrome de Down, antecedentes pre y perinatales y resultado de estudio genético. Se consignó la edad al ingreso, el motivo principal de ingreso, comorbilidades, días de hospitalización y fallecimiento. Se excluyeron dos pacientes con más del 50% de ficha in completa. Se exploraron asociaciones entre morbilidades, anomalías y fallecimiento. RESULTADOS: 140 de 79.506 (0,2%) recién nacidos vivos fueron diagnosticados con Síndrome de Down en el período neonatal. 24,7% fueron prematuros y 26,4% tuvieron bajo peso para su edad gestacional. Los porcentajes de morbilidad y hospitalización fueron 83,6% y 90%. La principal causa de ingreso fue la poliglobulia, y la más frecuente hiperbilirrubinemia. Fallecieron 4 pacientes (2,9%) y 70,7% presentó alguna una anomalía congénita, principalmente cardíaca. La mediana de edad materna fue de 36 años y 57,1% tenía 35 años o más. CONCLUSIONES: Esta investigación aporta información relevante para optimizar el manejo perinatal y el seguimiento de los pacientes con Síndrome de Down.

INTRODUCTION: In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate. OBJECTIVE: To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018. PATIENTS AND METHOD: We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death. RESULTS: 140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older. CONCLUSIONS: This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.

Humans , Male , Female , Infant, Newborn , Abnormalities, Multiple/epidemiology , Down Syndrome/epidemiology , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/therapy , Comorbidity , Logistic Models , Chile/epidemiology , Retrospective Studies , Follow-Up Studies , Down Syndrome/diagnosis , Down Syndrome/therapy , Hospitalization/statistics & numerical data
Arq. bras. oftalmol ; 83(4): 338-341, July-Aug. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131607


ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".

Humans , Infant , Aortic Coarctation/complications , Abnormalities, Multiple , Eye Abnormalities/complications , Neurocutaneous Syndromes/complications , Eye Neoplasms/complications , Hemangioma , Abnormalities, Multiple/diagnosis , Eye Abnormalities/diagnosis , Eye Neoplasms/diagnosis , Hemangioma/complications , Hemangioma/diagnosis
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Article in English | LILACS | ID: biblio-1098321


Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.

La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.

Humans , Female , Pregnancy , Adolescent , Adult , Abnormalities, Multiple , Ectromelia/complications , Ectromelia/diagnosis , Fetal Diseases/diagnosis , Anal Canal/abnormalities , Syndrome , Trachea/abnormalities , Fatal Outcome , Esophagus/abnormalities , Kidney/abnormalities
Rev. cir. (Impr.) ; 72(1): 68-71, feb. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1092893


Resumen Introducción El secuestro pulmonar es un segmento anormal de tejido pulmonar sin comunicación con el árbol traqueobronquial e irrigado por una arteria aberrante de origen sistémico. El secuestro pulmonar puede ser intralobar o extralobar. Caso Clínico Presentamos el caso de un neonato con dificultad respiratoria debido a secuestro pulmonar. El tratamiento quirúrgico consiste en la resección del segmento pulmonar con la ligadura y corte de su arteria. Se describe el manejo realizado y la revisión de la literatura indexada.

Introduction Pulmonary sequestration is an abnormal segment of lung tissue without communication with the tracheobronchial tree and irrigated by an aberrant artery of systemic origin. Can be intralobar or extralobar. Case report We present the case of a neonate with respiratory distress due to pulmonary sequestration. Surgical treatment consists in the resection of the lung segment with the ligature and cut of its artery. Is describe the management carried out and the review of the indexed literature.

Humans , Male , Infant, Newborn , Bronchopulmonary Sequestration/surgery , Bronchopulmonary Sequestration/diagnostic imaging , Aorta, Thoracic/abnormalities , Abnormalities, Multiple , Tomography, X-Ray Computed , Bronchopulmonary Sequestration/embryology , Treatment Outcome
Einstein (Säo Paulo) ; 18: eRC5335, 2020. tab, graf
Article in English | LILACS | ID: biblio-1133770


ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

RESUMO Anomalias cromossômicas são responsáveis por inúmeras malformações congênitas no mundo, algumas delas associadas a deleções teloméricas/subteloméricas. As anomalias que envolvem o telômero do cromossomo 12 são raras, com poucos relatos na literatura sobre deleções relacionados à região 12q24.31 e, até onde sabemos, apenas quatro deles na região 12q24.31-q24.33. Relatamos um outro caso de deleção intersticial das bandas 12q24.31-q24.33 associada ao transtorno do espectro do autismo. Trata-se de um menino de 2 anos de idade com atraso global no desenvolvimento associado a múltiplas anomalias congênitas. A utilização do Human Genome CGH Microarray 60K confirmou o diagnóstico da síndrome de deleção 12q. Este estudo fez uma revisão da literatura atual, comparando nosso paciente com casos previamente relatados. Estas análises detalhadas contribuem para o desenvolvimento de correlações genótipo/fenótipo para deleções 12q, que ajudam aos melhores diagnóstico e prognóstico desta deleção.

Humans , Male , Child, Preschool , Autistic Disorder/genetics , Chromosomes, Human, Pair 12/genetics , Chromosome Disorders/pathology , Rare Diseases/genetics , Autism Spectrum Disorder/genetics , Abnormalities, Multiple , Chromosome Aberrations , Chromosome Deletion
Artrosc. (B. Aires) ; 27(4): 188-193, 2020.
Article in Spanish | LILACS, BINACIS | ID: biblio-1178145


El síndrome de Larsen (OMIM 150250) fue descripto por primera vez en 1950 como una entidad caracterizada por rasgos faciales distintos y dislocaciones de múltiples articulaciones, paladar hendido, pérdida de audición y anomalías en la columna vertebral. Se estima que la prevalencia del síndrome de Larsen es uno por cada cien mil nacidos vivos.El manejo de múltiples luxaciones de las grandes articulaciones a menudo resulta difícil, particularmente si un paciente tiene una luxación completa de la rodilla. Tratamos a un niño con una luxación recurrente en forma habitual femorotibial completa. Según nuestro conocimiento, no hemos encontrado en la literatura ningún trabajo que describa el tratamiento de esta rara patología en un paciente que luxe completamente la tibia anteriormente sobre el fémur de manera habitual

Larsen syndrome (OMIM 150250) was first described in 1950 as an entity characterized by distinct facial features and dislocations of the multiple large joint, and cleft palate, hearing loss, and spinal abnormalities. The prevalence of Larsen syndrome is estimated to be one in hundred thousand live births. Management of multiple large-joint dislocations often proves difficult with a tendency toward recurrence, particularly if a patient has complete dislocation of the knee. We treated a boy with a clinical habitual recurrence femorotibial luxation. We have not found in the literature any paper in our knowledge that describes the treatment of this rare pathology of a patient who completely dislocate the tibia anteriorly on the femur in the usual way

Child , Recurrence , Abnormalities, Multiple , Knee Dislocation , Knee Injuries
Article in Chinese | WPRIM | ID: wpr-826545


OBJECTIVE@#To identify pathogenic variants in two families with patients suspected for Joubert syndrome(UBST) by cerebellar vermis hypoplasia.@*METHODS@#Clinical data and peripheral venous blood and skin tissue samples were collected for the extraction of genomic DNA. Potential variants were screened by using targeted capture and next generation sequencing. Suspected variants were validated by PCR and Sanger sequencing. The frequency of the variants in the population was calculated. Pathogenicity of the variants was predicted by following the guidelines of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided to these families upon subsequent pregnancy.@*RESULTS@#The proband of family 1 was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid. The proband of family 2 was found to harbor compound heterozygous variants of the CPLANE1 gene, namely c.7243dupA (p.T2415Nfs*7) and c.8001delG (p.K2667Nfs*31), which can respectively lead to premature termination of translation of ciliogenesis and planar polarity effector 1 after the 2145th and 2667th amino acids. All of the three variants were previously unreported, and were predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The AHI1 c.2072delT and CPLANE1 c.7243dupA and c.8001delG variants probably underlay JBTS3 in family 1 and JBTS17 in family 2, respectively. Based on above results, prenatal diagnosis may be offered to the affected families upon their subsequent pregnancies.

Abnormalities, Multiple , Diagnosis , Genetics , Adaptor Proteins, Vesicular Transport , Genetics , Cerebellum , Congenital Abnormalities , Eye Abnormalities , Diagnosis , Genetics , Female , Genetic Testing , Genetic Variation , Humans , Kidney Diseases, Cystic , Diagnosis , Genetics , Membrane Proteins , Genetics , Mutation , Pregnancy , Prenatal Diagnosis , Retina , Congenital Abnormalities
Article in Chinese | WPRIM | ID: wpr-826540


OBJECTIVE@#To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.@*METHODS@#Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).@*RESULTS@#The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband.@*CONCLUSION@#The de novo 22q12qter duplication probably underlies the abnormalities in the proband.

Abnormalities, Multiple , Genetics , Adult , Child , Chromosome Banding , Chromosomes, Human, Pair 22 , Genetics , Female , Genetic Testing , Humans , Intellectual Disability , Genetics , Karyotyping , Male , Trisomy
Article in Chinese | WPRIM | ID: wpr-826534


OBJECTIVE@#To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.@*METHODS@#The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.@*RESULTS@#The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.@*CONCLUSION@#The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.

Abnormalities, Multiple , Genetics , Child , Chromosome Duplication , Chromosomes, Human, Pair 22 , Genetics , Cleft Palate , Genetics , DNA Copy Number Variations , Genetic Testing , Heart Defects, Congenital , Genetics , Humans , Infant , Karyotyping