A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
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.
Thompson
E M
EM
Department of Paediatric Genetics, Hospitals for Sick Children, London, U.K.
Winter
R M
RM
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