Galea P, Tolmie J L
Division of Medical Paediatrics, Royal Hospital for Sick Children, Yorkhill, Glasgow.
J Med Genet. 1990 Dec;27(12):784-7. doi: 10.1136/jmg.27.12.784.
The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.
巴莱-杰罗尔德综合征（MIM *21860）的主要特征是颅缝早闭和桡骨发育不全。仅发表了12例病例，这些病例大致可分为两组：无任何其他异常的病例和具有广泛其他特征的病例。我们描述了一名仅患有颅缝早闭和桡骨发育不全的男孩，并强调了这种罕见综合征散发病例所带来的遗传咨询困难。
