一名患有明显面部畸形、关节松弛、手指弯曲及皮纹异常的智力发育迟缓女性。
A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.
作者信息
Franceschini P, Guala A, Besana D, Licata D, Di Cara G, Franceschini D
机构信息
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Turin, Italy.
出版信息
Genet Couns. 2002;13(1):55-8.
PMID:12017239
Abstract
We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral absence of c palmar triradius and single palmar crease) and a peculiar metacarpophalangeal profile. The possibility of a new MCA/MR is discussed.
摘要
我们描述了一名发育迟缓的女性患者，其具有明显的面部畸形（脸颊圆润肿胀、内眦赘皮、眼距过宽、短而宽的鼻子、低位且倾斜的耳朵）、关节松弛、手指弯曲、异常皮纹（双侧无c掌三叉点和单一掌纹）以及特殊的掌指轮廓。文中讨论了一种新的脑性瘫痪/智力障碍的可能性。
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