Ramos F J, McDonald-McGinn D M, Emanuel B S, Zackai E H
Division of Clinical Genetics, Children's Hospital of Philadelphia, Pennsylvania 19104.
Am J Med Genet. 1992 Dec 1;44(6):790-4. doi: 10.1002/ajmg.1320440614.
A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.
一名被诊断为朗格-吉迪恩综合征（II型毛发-鼻-指综合征）且存在8号染色体间质缺失的患者，还被发现有持续性泄殖腔和梅干腹序列征。这是关于这种关联的首次报告。据推测，这些后期的胚胎缺陷可能归因于染色体异常，这支持了相邻基因综合征的定义。
