Preaxial polydactyly and other defects associated with Klippel-Feil anomaly.
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.
da-Silva
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Department of Genetics, Federal University of Pernambuco, Recife, Brazil.
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications / Q000473:pathology*; D017689:Polydactyly / Q000209:etiology / Q000473:pathology*; D013933:Thumb / Q000002:abnormalities*