Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.
Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of spondyloepiphyseal dysplasia with microcephaly, unusual facies and moderate developmental delay.
Huson
S M
SM
Department of Medical Genetics, Churchill Hospital, Oxford, UK.
Crowley
S
S
Hall
C M
CM
Supramaniam
G
G
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome