伴有颅面异常的Vohwinkel综合征（致残性角皮病）。
Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies.
作者信息
Sensi A, Bettoli V, Zampino M R, Gandini E, Calzolari E
机构信息
Istituto di Genetica Medica, Università di Ferrara-Arcispedale S. Anna, Italy.
出版信息
Am J Med Genet. 1994 Apr 1;50(2):201-3. doi: 10.1002/ajmg.1320500212.
PMID:8010352
Abstract
We describe a female patient with Vohwinkel syndrome (mutilating palmoplantar keratoderma), who in addition showed cleft lip and palate, microcephaly, facial asymmetry, and other anomalies.
摘要
我们描述了一名患有Vohwinkel综合征（致残性掌跖角化病）的女性患者，她还表现出唇腭裂、小头畸形、面部不对称和其他异常。
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