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.File in questo prodotto:
File | Dimensione | Formato | |
---|---|---|---|
Am J Med Genet 1997 71.pdf
solo gestori archivio
Tipologia:
Versione Editoriale (PDF)
Dimensione
1.28 MB
Formato
Adobe PDF
|
1.28 MB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.