Unusual type of brachydactyly associated with intraventricular septal defect and deafness: a new condition?
We report a patient with brachydactyly associated with an intraventricular septal defect and sensorineural deafness. The second fingers had ulnar curvature. Radiographs showed bilateral hypoplastic middle phalanges of the 2nd and 5th fingers and the left 2nd digit showed hyperphalangy. The association of this unusual brachydactyly, intraventricular septal defect, and deafness does not conform to any known condition.
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Service for Clinical Genetics and Dysmorphology, Galliera Hospital, Genoa, Italy.
Costa
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D000015:Abnormalities, Multiple; D003638:Deafness / Q000150:complications*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography