251. Intellectual disability, unusual facial morphology and hand anomalies in sibs
- Author
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Raoul C.M. Hennekam, Gudrun E. Moore, Estelle Chanudet, Rodger Palmer, Sérgio B. Sousa, Philip L. Beales, Margarida Venâncio, Lina Ramos, Jorge M. Saraiva, Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, and Paediatrics
- Subjects
Adult ,Male ,Microcephaly ,Genotype ,Short stature ,03 medical and health sciences ,X Chromosome Inactivation ,Intellectual Disability ,Intellectual disability ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,Syndactyly ,Child ,Genetics (clinical) ,Aged ,030304 developmental biology ,Chromosome Aberrations ,Pointed chin ,0303 health sciences ,business.industry ,Deficiência Intelectual ,Siblings ,030305 genetics & heredity ,Brachydactyly ,Facies ,Syndrome ,Anatomy ,Middle Aged ,Short palpebral fissure ,medicine.disease ,Mão ,Filippi syndrome ,Female ,Anomalias Congénitas Múltiplas ,medicine.symptom ,business ,Hand Deformities, Congenital - Abstract
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. © 2013 Wiley Periodicals, Inc.
- Published
- 2013