Balci S, Erçal M D, Onol B, Cağlar M, Doğan A, Doğruel N
Hacettepe University, Department of Clinical Genetics, Ankara, Turkey.
Clin Genet. 1991 Apr;39(4):298-303. doi: 10.1111/j.1399-0004.1991.tb03029.x.
Two sibs with Beemer type short rib syndrome, one of them diagnosed in utero, are reported. Both patients had previously unreported additional abnormalities such as pyloric stenosis and short bowels. Dysplasia of pancreatic Langerhans cells was present in one sib.
报告了两名患有比默尔型短肋综合征的同胞,其中一名在子宫内就被诊断出来。两名患者都有以前未报告的其他异常情况,如幽门狭窄和短肠。其中一名同胞存在胰腺朗格汉斯细胞发育异常。