Seftel M D, Wright C A, Po P L, de Ravel T J
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.
Am J Med Genet. 1996 Dec 2;66(1):52-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P.
We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia.
我们报告一例致死性新生儿下颌骨发育不全综合征。患儿存在大的融合囟门、稀疏细软的毛发和眉毛、假性眼球突出、小颌畸形、杵状指及短锁骨。此外，我们首次描述了该疾病中腺性尿道下裂的存在。我们认为这例新生儿致死病例代表了下颌骨发育不全综合征的严重表现形式。
