Syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son

Syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son

We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared...

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Veröffentlicht in:American journal of medical genetics 1985-01, Vol.20 (1), p.159-163
Hauptverfasser: Krauss, Celeste M., Herman, Thomas E., Holmes, Lewis B., Opitz, John M., Reynolds, James F.
Format: Artikel
Sprache:eng
Schlagworte:
autosomal dominant inheritance
BBB syndrome
bone dysplasia
camptodactyly
clinodactyly
hypertelorism
hypospadias
hypospadias-telecanthus syndrome
Opitz-Frias syndrome
pes cavus
strabismus
telecanthus
X-linked inheritance
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Zusammenfassung:We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared metaphyses of long bones and osteopenia.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320200119