A rare type of low birthweight dwarfism: the Dubowitz syndrome.
Two patients with the Dubowitz syndrome are presented. This presumably recessive inherited syndrome was first defined by Grosse et al. (1971). So far 11 patients with this syndrome have been described. Major clinical findings are intrauterine and postnatal growth retardation, considerable microcephaly, mild mental retardation, hyperactivity, hyperextensibility of joints, eczema and a characteristic appearance of the face due to marked epicanthic folds, blepharophimosis, broadening of the bridge and tip of the nose and retrognathia. Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen. The exclusion of the non genetic fetal alcohol syndrome presents serious diagnostic problems.
D001724:Birth Weight; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications; D003456:Cryptorchidism / Q000150:complications; D004392:Dwarfism / Q000151:congenital*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D012871:Skin Diseases / Q000175:diagnosis; D013577:Syndrome