Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously.

Original languageEnglish
Pages (from-to)227-229
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume73
Issue number2
DOIs
Publication statusPublished - Dec 12 1997

Fingerprint

Nuclear Family
Fathers
Hand
Syndactyly
Microcephaly
Congenital Heart Defects
Subcutaneous Fat
Intellectual Disability
Fingers

Keywords

  • Autosomal dominant inheritance
  • Camptodactyly
  • Progeria syndrome
  • Tetralogy of Fallot

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son. / Giannotti, Aldo; Digilio, Maria Cristina; Mingarelli, Rita; Marino, Bruno; Dallapiccola, Bruno.

In: American Journal of Medical Genetics, Vol. 73, No. 2, 12.12.1997, p. 227-229.

Research output: Contribution to journalArticle

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