Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Gerpinnes (Loverval), Belgium.
J Med Genet. 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266.
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.
本文描述了一例患有严重颅缝早闭-桡骨发育不全（巴勒-杰罗尔德）综合征的新生男婴，其母亲孕期并发羊水过多和胎儿宫内生长受限。该男婴出生两小时后因长时间呼吸暂停而死亡。尸检发现额骨和顶骨广泛发育不全，导致囟门极大，同时伴有双侧冠状缝颅缝早闭。此外，还存在双侧桡骨发育不全、手足多指（趾）畸形、面部中线血管瘤以及肛门阴囊异位，所有这些在之前报道的10例病例中部分已有描述。还发现了小头畸形、肝脏成红细胞增多症以及胰岛细胞肥大。
