Preaxial Polydactyly and Other Defects Associated with Klippel-Feil Anomaly
作者:
Elias O. da-Suva,
期刊:
Human Heredity
(Karger Available online 1993)
卷期:
Volume 43,
issue 6
页码: 371-374
ISSN:0001-5652
年代: 1993
DOI:10.1159/000154162
出版商: S. Karger AG
关键词: Klippel-Feil anomaly;Congenital cervical vertebral fusion;Preaxial polydactyly;Triphalangeal thumb
数据来源: Karger
摘要:
A 5-year-old girl with Klippel-Feil anomaly and bimanual polydactyly of triphalangeal thumb is described. The main findings include – in addition to the classical congenital fusion of cervical vertebrae and the clinical triad of short neck, limitation of head and neck movement and low-set posterior hairline – several associated abnormalities: scoliosis, spina bifida occulta, absence of ribs, conductive hearing loss, mirror movements, unilateral renal ectopia with dilation of the collecting system, and microtia. The hand malformation appears to represent a previously unreported defect associated with Klippel-Feil anom
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