Abstract
Genée–Wiedemann syndrome is characterized by hypoplasia or aplasia of the ulnar ray, manifesting as small or missing digits and toes V and occasionally II and IV. In addition, the thumb may be small and proximally placed. The ulna and radius can be hypoplastic and the olecranon small or missing, and there may be radioulnar synostosis. Facial abnormalities include micrognathia, cleft lip and/or palate, coloboma of the eyelids, ectropion, downward slanting palpebral fissures, cup-shaped ears, low-set ears, hearing loss, choanal atresia, and tooth abnormalities. Further anomalies include rib abnormalities, pectus excavatum, supernumerary nipples, postnatal growth, pyloric stenosis, and midgut malrotation.
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Mundlos, S., Horn, D. (2014). Genée–Wiedemann Syndrome. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_84
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DOI: https://doi.org/10.1007/978-3-540-95928-1_84
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