title: A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
abstract: We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
authors.affiliation: Department of Paediatric Genetics, Hospitals for Sick Children, London, U.K.
authors.forename: E M
authors.initials: EM
authors.lastname: Thompson
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome