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Am J Med Genet. 1994 Sep 1;52(3):302-7.

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.

Author information

1
Istituto di Genetica Medica, Facolta' di Medicina A. Gemelli, U.C.S.C., Rome, Italy.

Abstract

A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed.

PMID:
7810561
DOI:
10.1002/ajmg.1320520310
[Indexed for MEDLINE]

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