伴身材矮小的舌下神经发育不全-多指（趾）畸形综合征——病例报告
Hypoglossia-hypodactyly syndrome with short stature - a case report.
作者信息
Goyal Manisha, Singh Ankur, Singh Pratiksha, Kapoor Seema
机构信息
Senior Research Officer, Department of Pediatrics, Maulana Azad Medical College Associated Lok Nayak Hospital , New Delhi, India .
Senior Research Associate, Department of Pediatrics, Maulana Azad Medical College Associated Lok Nayak Hospital , New Delhi, India .
出版信息
J Clin Diagn Res. 2014 Apr;8(4):SD01-2. doi: 10.7860/JCDR/2014/7809.4281. Epub 2014 Apr 15.
Abstract
The Oromandibular Limb Hypogenesis Syndromes (OLHS) comprises a spectrum of disorders involving the tongue, mandible, and the limbs and are characterized by hypoplastic mandible, absence of the lower incisors, hypoglossia, digits and limbs abnormalities ranges from syndactyly to amelia. In this report, we report a case of OLHS with growth hormone deficiency as a cause of short stature, which has not been described previously to the best of our knowledge.
摘要
口下颌肢体发育不全综合征（OLHS）包括一系列涉及舌头、下颌骨和四肢的疾病，其特征为下颌骨发育不全、下切牙缺失、舌发育不全，手指和四肢异常范围从并指（趾）到无肢畸形。在本报告中，我们报告了一例因生长激素缺乏导致身材矮小的OLHS病例，据我们所知，此前尚未有过相关描述。
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