The clinical delineation of malformation syndromes: Historical prospective and future direction
โ Scribed by John C. Carey
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 67 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum. GLI3 mutations in GCPS patients inc
Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other gene
## Abstract We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Youngโ