Preaxial Polydactyly and Other Defects Associated with Klippel-Feil Anomaly
- 1 January 1993
- journal article
- case report
- Published by S. Karger AG in Human Heredity
- Vol. 43 (6) , 371-374
- https://doi.org/10.1159/000154162
Abstract
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 anomaly.Keywords
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