Elalaoui Siham Chafai, Ratbi Ilham, Malih Mohamed, Bounasse Mohamed, Sefiani Abdelaziz
Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1092-4. doi: 10.1016/j.ijporl.2010.06.011. Epub 2010 Jul 15.
Hypoglossia is a rare congenital anomaly and is frequently associated with limb anomalies. In 1971, Hall employed the term hypoglossia-hypodactylia syndrome for the classification of these oromandibular-limb hypogenesis syndromes. The syndrome is characterized by hypoglossia, micrognathia mandible and variable degrees of limb abnormalities, frequent gingival abnormalities, and an absence of mandibular incisors. We describe an unusual case of hypoglossia-hypodactylia syndrome. The newborn had hypoglossia, limb defects and complex congenital cardiopathy, which has to date never been reported to be associated to this syndrome.
舌下缺失是一种罕见的先天性异常,常与肢体异常相关。1971年,霍尔使用“舌下缺失-指(趾)发育不全综合征”这一术语对这些口下颌-肢体发育不全综合征进行分类。该综合征的特征为舌下缺失、小下颌、不同程度的肢体异常、常见的牙龈异常以及下颌切牙缺失。我们描述了一例罕见的舌下缺失-指(趾)发育不全综合征病例。该新生儿患有舌下缺失、肢体缺陷和复杂的先天性心脏病,迄今为止尚未有报道称其与该综合征相关。