Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Am J Med Genet ; 51(2): 98-101, 1994 Jun 01.
Article in English | MEDLINE | ID: mdl-8092201

ABSTRACT

We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS.


Subject(s)
Abnormalities, Multiple/genetics , Consanguinity , Facial Bones/abnormalities , Polydactyly/genetics , Skull/abnormalities , Africa , Child , Humans , Infant , Male , Syndrome
SELECTION OF CITATIONS
SEARCH DETAIL
...