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TRICHO‐RHINO‐PHALANGEAL SYNDROME

1979; Wiley; Volume: 18; Issue: 7 Linguagem: Inglês

10.1111/j.1365-4362.1979.tb01972.x

1365-4632

Doyle Hansen, Stephen W. Shewmake,

Congenital Ear and Nasal Anomalies

ABSTRACT: The major characteristics of tricho‐rhino‐phalangeal syndrome (TRPS) include shortened and deviated digits, a typical fades with a pear‐shaped nose, a long phillrum and slowgrowing, fine, sparse hair. Cone‐shaped digital epiphyses are seen on x‐ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance.