Walley V M, Coates C F, Gilbert J J, Valentine G H, Davies E M
Am J Med Genet. 1983 Mar;14(3):445-52. doi: 10.1002/ajmg.1320140307.
We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro-osseous junction suggest that this syndrome may be heterogeneous or more variable than previously known.
我们描述了一名患有短肋多指(SRP)综合征Majewski型的外部和内部异常的婴儿。发现了以前未报告的椎体异常、胸骨和腓骨的骨化延迟以及间脑错构瘤。这些异常以及软骨-骨交界处的微小组织学异常表明,该综合征可能比以前所知的更为异质性或更具变异性。