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

作者信息

Neri G, Sabatino G, Bertini E, Genuardi M

机构信息

Istituto di Genetica Umana, Facoltà di Medicina A. Gemelli, U.C.S.C., Roma, Italy.

出版信息

Am J Med Genet. 1987 Aug;27(4):767-71. doi: 10.1002/ajmg.1320270404.

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.

摘要

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