Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. Clinical genetics. [Clin Genet] Journal article

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.

Clinical genetics. [Clin Genet]

Abnormalities, Multiple
Adult
Genes, Recessive
Humans
Limb Deformities, Congenital
Male
Mandible
Micrognathism
Osteolysis
Progeria
Skin Abnormalities
Syndrome