Greally M T, Jewett T, Smith W L, Penick G D, Williamson R A
Department of Pediatrics/Division of Genetics, University of Iowa Hospitals and Clinics, Iowa City.
Am J Med Genet. 1993 Nov 15;47(7):1086-91. doi: 10.1002/ajmg.1320470731.
Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We report on a male fetus of 31 weeks gestation whose clinical, radiologic and histologic findings are compared to reported cases of AT-I, Boomerang dysplasia and the patient of Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991). From the documentation of clinical and radiologic findings we demonstrate overlap of AT-I and Boomerang dysplasia in our patient, and, from histologic examination, suggest a defect of cartilage and bone formation as the basic abnormality in this lethal bone dysplasia.
I型atelosteogenesis（AT-I）和回旋镖发育不良已被描述为不同的致死性骨发育不良。Hunter和Carpenter（《临床遗传学》39(6): 471-480, 1991）在报告一名同时具有AT-I和回旋镖发育不良明显表现的患者时，提出了这两种病症存在共同病因的可能性。我们报告了一名妊娠31周的男性胎儿，将其临床、放射学和组织学检查结果与已报道的AT-I、回旋镖发育不良病例以及Hunter和Carpenter（《临床遗传学》39(6): 471-480, 1991）报道的患者进行了比较。从临床和放射学检查结果的记录来看，我们证明了我们的患者中存在AT-I和回旋镖发育不良的重叠情况，并且通过组织学检查，提示软骨和骨形成缺陷是这种致死性骨发育不良的基本异常情况。
