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 previously reported cases, these also were sporadic and had normal chromosomes.

The CFC syndrome--report of the first two cases outside the United States / G. Neri;G. Sabatino;E. Bertini;M. Genuardi. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 27:(1987), pp. 767-771. [10.1002/ajmg.1320270404]

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

GENUARDI, MAURIZIO
1987

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 previously reported cases, these also were sporadic and had normal chromosomes.
1987
27
767
771
G. Neri;G. Sabatino;E. Bertini;M. Genuardi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/649700
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