title: Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Churchill Hospital, Oxford, UK.
authors.forename: S M
authors.initials: SM
authors.lastname: Huson
authors.forename: S
authors.initials: S
authors.lastname: Crowley
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
authors.forename: G
authors.initials: G
authors.lastname: Supramaniam
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: 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