Prenatal diagnosis of Cri-du-chat syndrome: analysis of 11 cases / 中华围产医学杂志

Objective:To investigate the ultrasonographic and genetic features of Cri-du-chat syndrome (CDCS).Methods:In this retrospective study, cases with CDCS diagnosed in Wuxi Maternal and Child Health Care Hospital from 2004 to 2021 and with complete data were reviewed to describe and analyze the maternal serum prenatal screening, non-invasive prenatal testing (NIPT), ultrasound, genetic examination data, and pregnancy outcomes.Results:All cases were diagnosed by karyotype analysis, seven of them were diagnosed prenatally through amniotic fluid, and four were diagnosed after birth through peripheral blood. Five of the seven cases diagnosed prenatally had an abnormal serological screening, including two cases with 5p- indicated by NIPT. Of the 11 cases, prenatal ultrasonography showed cerebellar transverse diameter less than －2 SD in eight cases, including four with cerebellar hypoplasia (CH), two with fetal growth restriction, and two with cranial diameters less than －2 SD. One case was shown with an increased nuchal translucency, accompanying bilateral choroid plexus cysts of the lateral ventricles, and suspected persistent left superior vena cava. No obvious ultrasound abnormality was observed in the remaining two cases. Among the seven cases diagnosed prenatally, excluding one case that refused parental verification, further single nucleotide polymorphism array (SNP array) showed that all six cases inherited the de novo mutations from the parents. The cytogenetic analysis found the breakpoints at 5p13, 5p14, and 5p15 in five, three, and three cases. All seven pregnancies were terminated in the second trimester. Four children diagnosed postnatally presented with CDCS phenotype during the follow-up at three years old. Conclusions:Fetal CDCS should be considered with CH detected by prenatal ultrasonography, though the correlation between CH and CDCS still needs further investigation. Gene mapping with an SNP array is helpful for phenotypic profiling and genetic counseling.

Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a high caries index. However, treating such patients is not an easy task, because of the difficulty in communication. General anesthesia may be a useful option in adult patients with CdCS and intellectual disability. General anesthesia should be administered very carefully, owing to the presence of comorbid diseases, which may need airway management. Infants with CdCS need general anesthesia if they have a concomitant cardiac anomaly. Intubation is reportedly difficult for such patients was, owing to the structural and functional abnormalities in the larynx and vocal cords. The purpose of this study was to report a case of difficult intubation while inducing general anesthesia in a patient with CdCS during dental treatment, due to a narrow larynx and trachea.

Síndrome de Cri du chat: primer reporte en mosaico en el suroccidente colombiano / Cri du chat syndrome: first report of mosaicism in the colombian southwest

El síndrome de Cri du chat es una alteración cromosómica causada por deleciones en el brazo corto de cromosoma 5, las cuales varían en tamaño, desde muy pequeñas que comprometen solo el locus 5p15.2, hasta la pérdida de todo el brazo corto. Las mutaciones se originan de novo en el 80% a 90% de los casos. Existen dos regiones críticas para el síndrome de Cri du chat; una ubicada en 5p15.3, cuya deleción se manifiesta con el llanto de maullido de gato y retraso en el habla, y otra ubicada en 5p15.2, cuya deleción se manifiesta como microcefalia, hipertelorismo, retraso psicomotor y mental severo. Se han descrito varios genes implicados localizados en estas regiones críticas; entre ellos, TERT, SEMA5A, CTNND2 y MARCHF6, cuya haploinsuficiencia se asocia con los diferentes fenotipos del Cri du chat. En este artículo se describe el caso clínico de una paciente femenina de 8 meses de vida, con características clínicas y un análisis citogenético en mosaico que confirmaron el síndrome de Cri du chat. Este caso es el primero reportado de esta variante en el suroccidente colombiano.

Cri du chat syndrome is a chromosomal disorder caused by deletions in the short arm of chromosome 5, which vary in size, from very small and involving only the 5p15.2 locus, to the loss of the entire short arm. Mutations originate de novo in 80% to 90% of cases. There are two critical regions for Cri du chat syndrome; one located at 5p15.3 with a deletion that is manifested as a cat's cry and speech delay, and another located at 5p15.2 with a deletion that manifests as microcephaly, hypertelorism, severe psychomotor and mental retardation. Several involved genes located in these critical regions have been described; among them, TERT, SEMA5A, CTNND2 and MARCHF6, and whose haploinsufficiency is associated with the different phenotypes of Cri du chat. This article describes the clinical case of an 8-monthold female patient, with clinical characteristics and a mosaic cytogenetic analysis that confirmed Cri du chat syndrome. This case is the first reported of this variant in southwestern Colombia.

Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant / 고신대학교의과대학학술지

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS).

Cri-du-chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization / Síndrome de cri du chat diagnosticado en mujer de 21 años por hibridación genómica comparativa

Abstract The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and 1:50000 live births. Diagnosis is suspected on infants with a high-pitched (cat-like) cry, facial dysmorfism, hypotonia and delayed psychomotor development. In adults, phenotypic findings are less specific. It is confirmed through high-resolution G-banding karyotype, fluorescent in situ hybridization or microarray-based comparative genomic hybridization (a-CGH). The following is the case report of a 21-year-old female patient with severe mental retardation and trichotillomania, who does not control sphincters and does not bathe or eat by herself. Her communication is based only on sounds and dysmorphic facies. The G-band karyotype reported is 46, XX. a-CGH shows 18.583Mb interstitial microdeletion in 5p15.33p14.3, including the cri-du-chat critical region. In children or adults with unexplained mental retardation and normal karyotype results (like this case), an a-CGH should be performed to make an etiological diagnosis, establish the prognosis, order additional medical tests and specific treatments, and offer appropriate genetic counseling.

Resumen El síndrome de cri du chat o del maullido de gato es causado por una deleción en el brazo corto del cromosoma 5; el tamaño de la pérdida de material genético varía desde solo la región 5p15.2 hasta el brazo entero. La prevalencia va desde 1 por 15 000 habitantes hasta 1 por 50 000 habitantes. Su diagnóstico se puede confirmar con cariotipo con bandas G de alta resolución, hibridación fluorescente in situ o hibridación genómica comparativa por microarreglos (HGCm); este se sospecha en infantes con un llanto similar al maullido de un gato, fascies dismórficas, hipotonía y retardo del desarrollo psicomotor; sin embargo, en los adultos afectados los hallazgos fenotípicos son menos específicos. Se presenta el caso de una mujer de 21 años con retardo mental severo y tricotilomanía, que no controla esfínteres y no se baña ni come sola; solo emite ruidos y tiene facies dismórficas. El cariotipo de bandas G es reportado 46, XX y la HGCm muestra microdeleción de 18.583Mb en 5p15.33p14.3, incluyendo región crítica de cri du chat. En pacientes de este tipo se debe realizar HGCm para hacer un diagnóstico etiológico, establecer un pronóstico, ordenar pruebas médicas adicionales y tratamientos específicos y realizar la adecuada asesoría genética.

Prenatal diagnosis of 5p deletion syndrome: A case series report

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

Lack of Myelination in the Anterior Limbs of the Internal Capsule Associated with Cri-du-Chat Syndrome: Case Report

A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symmetrical lack of myelination in both anterior limbs of the internal capsule could be a diagnostic clue of cri-du-chat syndrome.

Síndrome de 5p menos. Presentación de un caso / 5p- Syndrome. A Case Report

El síndrome de 5p menos, más conocido por el síndrome del maullido de gato, es una enfermedad congénita poco frecuente producida por alteración cromosómica. Su prevalencia se estima aproximadamente en 1/20 000-50 000 nacimientos. Se presenta un paciente de cinco años con características fenotípicas sugestivas de esta afección. Se arribó al diagnóstico citogenético de cromosopatía, cariotipo 46, XY del(5)(p19.1). Se presenta este caso con el objetivo de que se conozca la necesidad de la intervención multidisciplinaria, pues no solo deben atenderse los aspectos orgánicos, sino también los educativos y sociales. Se concluye que es importante la realización de un diagnóstico precoz de esta entidad para la estimulación, rehabilitación y fisioterapia en etapa temprana, así como para brindar un adecuado asesoramiento genético a la familia.

5p- syndrome, better known as Cat Cry syndrome, is a rare congenital disease caused by a chromosomal abnormality. Its prevalence is approximately 1 in 20 000-50 000 births. The case of a five-year-old female patient with phenotypic features suggestive of this condition is presented. Cytogenetic diagnosis of chromosomal abnormality, karyotype 46, XY del(5)(p19.1), was established. This case is presented in order to show the need for a multidisciplinary intervention to address not only the organic aspects, but also the educational and social. It is concluded that early diagnosis of this entity is crucial for stimulation, rehabilitation and physiotherapy at an early age and for providing adequate genetic counseling to the family.

Pure Red Cell Aplasia in a Patient with Cri-Du-Chat.

Background: The Cri-Du-Chat syndrome also known as 5p- syndrome is a rare genetic autosomal disorder with the characteristic deletion of the short arm (p) of chromosome 5. To date, hematologic manifestations characteristic of BM failure have not been linked to this syndrome. Aims: To evaluate the safety and efficacy of cyclosporine to treat pure red cell aplasia in the clinical setting of 5p- syndrome. Presentation of Case: We report here a patient with 5p- syndrome who subsequently developed idiopathic pure red cell aplasia. He was treated with cyclosporine 1mg/kg twice a day, and achieved a complete remission, with no toxicities. Conclusion: This case suggests that cyclosporine can be used safely and effectively in such clinical scenario.

Cri-du-Chat syndrome: conservative dental treatment in an 8-year old child / Síndrome de Cri-du-Chat: tratamento odontológico conservador em uma criança de 8 anos de idade

O objetivo deste artigo é relatar o caso de uma paciente de 8 anos de idade com a síndrome do miado do gato (CdCS) que foi encaminhada à clínica de odontopediatria para tratamento odontológico de urgência. As principais queixas eram uma lesão traumática nos incisivos centrais superiores permanentes e dificuldade em realizar a higiene oral. A paciente foi extremamente cooperativa durante a avaliação clínica, demonstrando capacidade de colaborar com opções de tratamentos conservadores sob anestesia local. O exame clínico mostrou overjet acentuado, lesões de cárie e uma higiene oral muito pobre. Avaliações clínicas e radiográficas foram necessárias para diagnosticar e determinar estratégias de tratamento das lesões traumáticas, lesões de cárie e gengivite, as quais foram realizadas ao longo de cinco consultas odontológicas. Os desfechos do tratamento são descritos. Este caso ilustra a variedade de achados clínicos que os odontopediatras podem encontrar na cavidade oral e face de pacientes com CdCS e os problemas que essas alterações podem causar. No atendimento desses pacientes, os dentistas devem tentar fornecer o melhor tratamento possível, priorizando o uso de técnicas conservadoras.

The aim of this article was to report the case of an 8-year old patient with Cri-du-Chat syndrome (CdCS) referred to the pediatric dental clinic for urgent dental treatment. The chief complaints were a traumatic injury to both permanent maxillary central incisors and difficulty performing oral hygiene. The patient was extremely cooperative during clinical evaluation, demonstrating ability to withstand conservative treatment options. Dental examination revealed accentuated overjet, carious lesions, and very poor oral hygiene. Clinical and radiographic evaluations were necessary to diagnose and determine treatment strategies for the traumatic injuries, carious lesions, and gingivitis, which were implemented over a total of five dental visits. Outcomes of the treatment strategies adopted are described. This case report illustrates the variety of clinical findings that pediatric dentists may encounter in the oral cavity and face of patients with CdCS and the problems that these alterations may cause. When faced with a CdCS patient, dentists should try to provide the best treatment possible and prioritize the use of conservative techniques.

Intervenção da Terapia Ocupacional na Síndrome de Cri-du-Chat: estudo de caso / Occupational Therapy Intervention in a child with Cri-du-Chat Syndrome: a case study

A Síndrome de Cri-du-Chat é uma anomalia cromossômica que pode resultar em diversos acometimentos, incluindo atraso no desenvolvimento neuropsicomotor e deficiência intelectual. Este estudo de caso descreve a intervenção terapêutica-ocupacional com uma criança com Síndrome de Cri-du-Chat que foi acompanhada em atendimentos semanais, em um hospital escola do interior paulista entre 2 e 4 anos de idade. Para descrição do caso foram utilizados os registros no prontuário, relatos de familiares, bem como os dados dos atendimentos de Terapia Ocupacional. Na avaliação inicial identificou-se que a criança era hipotônica, ficava em pé com apoio e explorava objetos levando-os à boca. Os objetivos terapêutico-ocupacionais pautaram-se na estimulação das habilidades de desempenho sensório-motoras (processamento perceptual, neuro-músculo-esquelético e motor) e de integração cognitiva e componentes cognitivos (espectro de atenção, sequenciamento, aprendizado), por meio da estimulação do faz de conta e participação nas atividades de vida diária. Além de tais aspectos, foi necessário intervir diretamente no contexto escolar e familiar da criança, orientando os pais a evitar a superproteção. Por meio do trabalho conjunto entre equipe multiprofissional e familiares foi possível contribuir para a melhora das funções do corpo, possibilitando ampliação das atividades e participação, considerando os fatores pessoais e ambientais da criança, com consequente alta dos atendimentos ambulatoriais de Terapia Ocupacional.

Cri-du-Chat syndrome is a chromosomal abnormality that can result in several damages including developmental delay and intellectual disability of the affected child. This case study describes the occupational therapy intervention in a child with Cri-du-chat syndrome that was followed from two to four years old, in weekly sessions, at a school hospital in the state of São Paulo. Data from medical records, family reports, and occupational therapy sessions were used for case description. The initial assessment showed that the child was hypotonic, stood up only with support, and explored objects by taking them to the mouth. Occupational Therapy assistance aimed to stimulate sensorimotor performance skills (perceptual, neuromuscleskeletal and motor processing) and cognitive integration and components (attention spectrum, sequencing, and learning), through make-believe activities and participation in the activities of daily living (ADL). Moreover, it was also necessary to intervene directly in the school context and the child?s family, advising parents to avoid overprotection. Through the joint effort of the multidisciplinary team and the child?s family, it was possible to contribute to the improvement of bodily functions, allowing an increase in activities and participation, considering the child?s personal factors and environmental conditions, with consequent discharge from ambulatory attendance of occupational therapy.

Cri-du-chat syndrome: a case report and literature review / 中华全科医师杂志

A neonatal girl with overextended knees admitted to NICU of our hospital was diagnosed as cri du chat (cat cry) syndrome.We collected 34 cases of cri du chat reported in journals since 2000,the clinical features of total 35 cases were retrospectively analyzed.Among 35 cases 12 were boys and 23 girls.The most common clinical manifestations were characteristic face features(100％),difficult feeding(100％) and typical sound of cry(94％).The main complains at hospital visit were typical cry,difficult feeding and cyanosis in the neonatal period,while in childhood period were recurrent respiratory infection,developmental retardation and other abnormalities.Most cases were diagnosed in the neonatal phase,while 85.3％ were in the first year.The diagnosis was based on karyotype analysis; chromosome 5 short arm deletion (5P-) was the most significant genetic variation and clinical features were associated with the position of deletion.

Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

Cri du chat syndrome: A series of five cases.

The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.

A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome / 대한소아신경학회지

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.

A Case of Cat Cry Syndrome Associated with Cleft Lip / Oral Science International

Cat cry syndrome (cri-du-chat syndrome) is an extremely rare condition characterized by a high shrill cry during infancy, resulting from either the deletion of the short arm of chromosome 5 or unbalanced translocation inherited from a parent. We report the case of a 1-year-old girl with cat cry syndrome associated with cleft lip. The patient showed a ventricular septal defect, cleft lip, growth and mental retardation, micrognathia, ptosis of the eyelids, hypertelorism, epicanthal folds, and a preauricular tag on the right side. A chromosomal study revealed the terminal deletion of chromosome 5 (46, XX, del(p14.2)ish del(5)). Repair of the cleft lip was carried out concurrently with resection of the preauricular tag, and the patient's postoperative course was uneventful.

Ocular Findings in Cri Du Chat Syndrome: A Case Report

PURPOSE: To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities. CASE SUMMARY: A 7 - month - old infant was confirmed as having cri du chat syndrome by a chromosomal study. He showed mild developmental retardation and eyeball deviation. This male infant underwent ophthalmic evaluations, including an extraocular examination, measurement of deviation, ocular movement test, interepicanthal distance, and fundus examination. As a result, facial abnormalities were found, including telecanthus and epicanthal folds. The infant had intermittent exotropia of 40 prism diopters according to the Hirschberg test and optic atrophy according to the fundus examination. CONCLUSIONS: Cri du chat syndrome manifests with many different ocular symptoms, including hypertelorism, telecanthus, epicanthal folds, and exotropia.

The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome

PURPOSE: Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. METHODS: In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. RESULTS: Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. CONCLUSION: The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.