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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Growth Hormone Deficiency Associated With the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome and Isolated Absent Septum Pellucidum
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Growth Hormone Deficiency Associated With the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome and Isolated Absent Septum Pellucidum

机译:生长激素缺乏症与子宫外胚层发育不全综合征和孤立的缺席隔离膜相关。

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摘要

Two growth hormone-deficient patients with particular developmental defects are presented. One patient had the ectrodactyly-ectodermal dysplasia-clefting syndrome with lobster-claw deformities of the hands; thin, blond, and dry hair and enamel hypoplasia; and a facial raphe on the right side of the philtrum. The other patient had isolated absence of the septum pellucidum. The facial raphe and the absent septum pellucidum are related to cleft lip and septooptic dysplasia, conditions that have been associated with growth hormone failure. The association of the ectrodactyly-ectodermal dysplasia-clefting syndrome with isolated growth hormone deficiency has not been described previously.
机译:介绍了两名具有特定发育缺陷的生长激素缺乏症患者。 1例患者发生外胚层-外胚层发育不良综合征,手有龙虾爪畸形。稀疏,金色,干燥的头发和牙釉质发育不全;和在右半边的面部缝线。另一名患者孤立无隔中隔。面部鼻中隔和透明隔未见与唇left裂和先天性发育不全有关,这些情况与生长激素衰竭有关。以前没有描述过外胚层-外胚层发育不良综合征与孤立的生长激素缺乏症的关系。

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