Brief clinical report

The CFC syndrome. Report of the first two cases outside the United States

G. Neri, G. Sabatino, E. Bertini, M. Genuardi

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previous reported cases, these also were sporadic and had normal chromosomes.

Original languageEnglish
Pages (from-to)767-771
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume27
Issue number4
Publication statusPublished - 1987

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Intellectual Disability
Megalencephaly
Splenomegaly
Hernia
Hair
Chromosomes
Skin
Growth
Cardiofaciocutaneous syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Brief clinical report : The CFC syndrome. Report of the first two cases outside the United States. / Neri, G.; Sabatino, G.; Bertini, E.; Genuardi, M.

In: American Journal of Medical Genetics, Vol. 27, No. 4, 1987, p. 767-771.

Research output: Contribution to journalArticle

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