Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies

S M Huson; S Crowley; C M Hall; G Supramaniam; R M Winter

Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies

Clin Dysmorphol. 1993 Jan;2(1):20-7.

Authors

S M Huson¹, S Crowley, C M Hall, G Supramaniam, R M Winter

Affiliation

¹ Department of Medical Genetics, Churchill Hospital, Oxford, UK.

PMID: 8298734

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Child
Consanguinity
Face / abnormalities*
Female
Genes, Recessive
Humans
Intellectual Disability / genetics*
Leg / diagnostic imaging
Male
Microcephaly / genetics*
Osteochondrodysplasias / diagnostic imaging
Osteochondrodysplasias / genetics*
Radiography
Spine / diagnostic imaging
Syndrome