Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.
نویسندگان
چکیده
منابع مشابه
The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects
Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases. This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...
متن کاملHoloprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalu...
متن کاملCongenital heart defects in Williams syndrome.
Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenge...
متن کاملCongenital heart defects in Kabuki syndrome.
BACKGROUND Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. METHODS Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenita...
متن کاملBranchio-oculo-facial syndrome (BOFS) and congenital heart defects.
We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia an...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1987
ISSN: 1468-6244
DOI: 10.1136/jmg.24.11.714