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.
|Number of pages||6|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 1994|
- KBG syndrome
- multiple congenital anomalies/mental retardation syndrome
- phenotypic penetrance
ASJC Scopus subject areas