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Hum Hered. 1993 Nov-Dec;43(6):371-4.

Preaxial polydactyly and other defects associated with Klippel-Feil anomaly.

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Department of Genetics, Federal University of Pernambuco, Recife, Brazil.


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.

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