✦ LIBER ✦

Familial broad terminal phalanges with one individual showing additional anomalies

✍ Scribed by Pavone, Lorenzo; Sorge, Giovanni; Pavone, Vito; Rizzo, Renata; Ruggieri, Martino; Polizzi, Agata; Opitz, John M.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 23 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970822)71:3<271::aid-ajmg4>3.0.co;2-x

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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