脑颜面胸廓发育不良：一个新的家系

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F

Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

J Med Genet. 1992 Jul;29(7):497-9.

We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental retardation, and affable behaviour. The features are similar to those previously described in three unrelated children and may represent new cases of cerebrofaciothoracic dysplasia.

我们描述了一对父母近亲结婚所生的兄弟，他们患有面部畸形、脊椎和肋骨复杂异常、脑室和透明隔增大、智力发育迟缓以及行为友善。这些特征与之前在三个无血缘关系的儿童中所描述的相似，可能代表了脑颜面胸廓发育不良的新病例。