Duval A, Boute O, Devisme L, Valat A S, Manouvrier S
Consultation de Conseil Génétique, Hôpital Jeanne de Flandre Chru, Lille, France.
Am J Med Genet. 1998 Dec 4;80(4):429-34.
We describe two female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in case 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and parents. This phenotype has some similarities with different syndromic entities but an identical malformation syndrome seems not to have been described previously. Autosomal recessive inheritance is the most likely cause of this putative "new syndrome."
我们描述了一对非近亲夫妇孕育的两名女胎。由于严重小头畸形，妊娠分别在孕31周和26周时终止。尸检X线和解剖学研究显示，两名胎儿均有：1）严重宫内生长受限；2）面部异常，特征为严重小头畸形、前额倾斜、耳低位且向后成角、眼睛突出、睑裂向下倾斜、鼻子大、小嘴且嘴唇丰满、轻度小颌后缩；3）严重脑发育不全，在第二个胎儿中更明显；4）严重肋骨发育不全，伴有后部肋骨间隙缺损，在病例2中，还有几块骨骼（右锁骨、右桡骨和尺骨、手脚的几块指骨）发育不全；5）大关节挛缩。未观察到其他内脏畸形，患者2及其父母的染色体正常。这种表型与不同的综合征实体有一些相似之处，但此前似乎尚未描述过相同的畸形综合征。常染色体隐性遗传最有可能是这种假定的“新综合征”的病因。
