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口下颌肢体发育不全综合征:II C型,舌发育不全-指(趾)发育不全症。

Oromandibular-limb hypogenesis syndrome: type II C, hypoglossia-hypodactylomelia.

作者信息

Elzay R P, Van Sickels J E

出版信息

Oral Surg Oral Med Oral Pathol. 1979 Aug;48(2):146-9. doi: 10.1016/0030-4220(79)90052-5.

DOI:10.1016/0030-4220(79)90052-5
PMID:289081
Abstract

A patient with oromandibular-limb syndrome, Type II C, hypoglossia-hypodactylomelia, is documented and the pertinent literature critically reviewed. In addition to limb and tongue anomalies the patient had hypognathia, microstomia, absent mandicular permanent incisors, and enamel dysplasia. Her unrelated parents and siblings are normal. Past medical history for drug exposure to the mother during pregnancy was negative.

摘要

记录了一名患有II C型口下颌肢体综合征、舌下-指(趾)发育不全的患者,并对相关文献进行了严格审查。除肢体和舌头异常外,该患者还患有下颌后缩、小口畸形、下颌恒牙切牙缺失和釉质发育不全。她的非近亲父母和兄弟姐妹均正常。母亲孕期药物暴露的既往病史为阴性。

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