Daïkha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P
Service de Biologie du Développement, Hôpital Robert-Debré, Paris, France.
Am J Med Genet. 1998 Dec 28;80(5):514-7. doi: 10.1002/(sici)1096-8628(19981228)80:5<514::aid-ajmg15>3.0.co;2-0.
We report on a fetus with cranio-facial anomalies, a narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects were seen on roentgenographic examination, including absent vertebrae and ribs, a supernumerary vertebra, a hemivertebra, and rib fusion. These findings are compatible with Casamassima-Morton-Nance syndrome. The patient was the carrier of a translocation t(6;9)(p12;q12), inherited from the mother. Although the occurrence of this rearrangement may be coincidental, it may also indicate a possible locus for this autosomal recessive thoracic dysplasia.
我们报告了一名患有颅面畸形、胸廓狭窄、肛门闭锁伴泄殖腔囊肿以及泌尿生殖系统畸形（子宫、阴道和外生殖器缺如）的胎儿。X线检查发现主要的胸部缺陷，包括椎骨和肋骨缺如、额外椎骨、半椎体和肋骨融合。这些发现符合卡萨马西马 - 莫顿 - 南斯综合征。该患者是从母亲那里遗传而来的易位t(6;9)(p12;q12)的携带者。虽然这种重排的发生可能是巧合，但也可能表明这种常染色体隐性胸廓发育不良的一个可能位点。
