Pallotta R, Morgese G
Clin Genet. 1984 Aug;26(2):133-8. doi: 10.1111/j.1399-0004.1984.tb00803.x.
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.
下颌骨发育不全综合征似乎是一种非常罕见的综合征,可能是因为它通常被误诊。本文描述了两兄弟的病史,证实了威尔士(1975年)早期关于常染色体隐性遗传的假设,并提出了一些有助于诊断这种罕见遗传性综合征的观察结果。