We describe a family with four relatives showing broad terminal phalanges (BTP) of the fingers and toes. One also had mental retardation, an unusual facial appearance, cleft palate with bifid uvula, and gingival hyperplasia. The BTP anomaly in this family seems to be transmitted as an autosomal dominant trait. (C) 1997 Wiley-Liss, Inc.

Familial broad terminal phalanges with one individual showing additional anomalies

RIZZO, Renata;PAVONE, VITO;RUGGIERI, MARTINO;A. POLIZZI;
1997-01-01

Abstract

We describe a family with four relatives showing broad terminal phalanges (BTP) of the fingers and toes. One also had mental retardation, an unusual facial appearance, cleft palate with bifid uvula, and gingival hyperplasia. The BTP anomaly in this family seems to be transmitted as an autosomal dominant trait. (C) 1997 Wiley-Liss, Inc.
1997
broad terminal phalanges; clubbing of the fingers; drumstick finger; digit anomalies; hypertrophic osteoarthropaty
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/2236
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