title: Acrocallosal syndrome in two African brothers born to consanguineous parents.
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.
authors.affiliation: Department of Human Genetics and Developmental Biology, University of Pretoria, South Africa.
authors.forename: A L
authors.initials: AL
authors.lastname: Christianson
authors.forename: P A
authors.initials: PA
authors.lastname: Venter
authors.forename: J L
authors.initials: JL
authors.lastname: Du Toit
authors.forename: N
authors.initials: N
authors.lastname: Shipalana
authors.forename: G S
authors.initials: GS
authors.lastname: Gericke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000349:Africa; D002648:Child; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D017689:Polydactyly / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome