Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia.
We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males). As the syndrome has been described in males and females and also in two sibs, inheritance is probably autosomal recessive.
Nevin
N C
NC
Regional Genetics Centre, Belfast City Hospital Trust, Northern Ireland.
Mulholland
H C
HC
Thomas
P S
PS
D006332:Cardiomegaly / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000235:genetics; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome