NEW FINDINGS IN SHORT RIB SYNDROME
NEW FINDINGS IN SHORT RIB SYNDROME
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DOI：
10.1002/ajmg.1320460302
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发表时间：
1993-05-15
期刊：
影响因子：
--
通讯作者：
ABDENOUR, GE
中科院分区：
文献类型：
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作者：
CIDECIYAN, D;RODRIGUEZ, MM;ABDENOUR, GE
这名妊娠37周的白色婴儿出生时，有一个巨大的颅骨，双眼无眼，中线唇腭裂，胸廓发育不良，肋骨较短，腹部略有隆起，四肢较短，双侧单一掌侧横纹，单脐动脉，正常女性外生殖器，正常(46XY)染色体，放射学结果提示IV型短肋(多指)综合征(Beemer-Langer)。尸检显示肺发育不良，双侧肾囊性发育不良，肝内胆管囊肿伴门静脉周围纤维化，胰腺囊肿，内生殖器缺失，萎缩的视交叉，缺失视神经，单个左侧大脑前动脉，多小脑回，额叶、视前区、乳头体和丘脑融合。
This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.