Morton J E
Clinical Genetics Unit, Birmingham Women's Hospital, United Kingdom.
Am J Med Genet. 1998 Aug 27;79(1):8-11. doi: 10.1002/(sici)1096-8628(19980827)79:1<8::aid-ajmg3>3.0.co;2-m.
I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autosomal recessive condition was first described in 1976 and was originally predicted to be relatively common in those of Spanish descent. However, there have been no further reports of the condition. This case is remarkably similar to those previously described, but has the additional finding of a neuronal migration defect.
我描述了一名患有人字缝早闭、严重全面发育迟缓、癫痫、眼球运动性失用症、胼胝体非常薄以及轻微异常的男孩。该表型符合颅面骨发育不全的诊断。这种常染色体隐性疾病于1976年首次被描述，最初预计在西班牙裔人群中相对常见。然而，此后没有关于该疾病的进一步报道。该病例与先前描述的病例非常相似，但有额外的神经元迁移缺陷的发现。
