CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY - A NEW SYNDROME .1. CLINICAL, CAUSAL, AND PATHOGENETIC CONSIDERATIONS
CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY - A NEW SYNDROME .1. CLINICAL, CAUSAL, AND PATHOGENETIC CONSIDERATIONS
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DOI：
10.1002/ajmg.1320070110
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发表时间：
1980-01-01
期刊：
影响因子：
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通讯作者：
REED, SD
中科院分区：
文献类型：
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作者：
HALL, JG;PALLISTER, PD;REED, SD
我们报告了六名患有下丘脑错母细胞瘤、轴后多指畸形和肛门闭锁的新生儿致命畸形综合征的婴儿。一些（但不是全部）患者患有喉裂、肺分叶异常、肾发育不全和/或肾发育不良、第四掌骨短、指甲发育不良、多个颊系带、肾上腺功能减退、小阴茎、先天性心脏缺陷和胎儿宫内生长迟缓。婴儿还患有垂体功能低下和肾上腺功能低下。均为散发病例，父母非近亲结婚，染色体明显正常。家族史并无异常。其中几例存在杀虫剂和/或除草剂暴露情况，但所有 6 名母亲均未接触过杀虫剂和/或除草剂。其中 5 名患者在 8 个月内出生，但均出生在不同的地理位置。据推测，这是一种以前明显未报告的综合征，目前原因尚不清楚。
We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congential heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism.All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8‐month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.