Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance.
Mandibuloacral Dysplasia would appear to be a very rare syndrome, probably because it is usually mistakenly diagnosed. This article describes the case histories of two brothers, confirming Welsh's (1975) earlier hypothesis concerning autosomal recessive inheritance and makes certain observations which should be helpful in diagnosing this rare hereditary syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008844:Micrognathism / Q000235:genetics; D010014:Osteolysis / Q000235:genetics; D011371:Progeria / Q000235:genetics*; D012868:Skin Abnormalities; D013577:Syndrome