Davies S J, Hughes H E
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Clin Dysmorphol. 1992 Oct;1(4):207-15.
A girl, who presented initially to the orthodontist because of anterior and posterior open-bite, was noted to have short stature and facial dysmorphism suggesting the diagnosis of acrodysostosis. Her father had similar features, though less marked. Photographs of the paternal grandfather showed short stature and a similar facies. This family presents a further example of autosomal dominant inheritance of acrodysostosis and highlights the difficulty in distinguishing between acrodysostosis and pseudohypoparathyroidism.
一名女孩因前后牙开合最初就诊于正畸医生，被发现身材矮小且面部畸形，提示诊断为肢端发育不全。她的父亲有类似特征，不过不太明显。其祖父的照片显示身材矮小且面容相似。这个家庭提供了肢端发育不全常染色体显性遗传的又一个例子，并突出了区分肢端发育不全和假性甲状旁腺功能减退的困难。
