Merlob P, Schonfeld A, Grunebaum M, Mor N, Reisner S H
Am J Med Genet. 1987 Jan;26(1):195-202. doi: 10.1002/ajmg.1320260129.
We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.
我们描述了两名患有脑-肋-下颌综合征的患者，一位父亲及其女儿。此前未描述过的新表现包括小口畸形、长人中、颈后皮肤褶皱、乳头间距短和骶部凹陷。先证者存在脑积水以及父亲患有脊柱裂可能是该综合征神经轴受累的其他表现。该综合征的首次宫内超声记录显示羊水过多，尤其是肋骨形状非常异常，肋骨短且有缺陷。家系的大多数特征指向常染色体显性遗传。文献中描述的极少数已记录家族病例的遗传和表达具有很大变异性，再加上散发病例的高频率出现，表明该综合征存在遗传异质性。
