American Journal of Medical Genetics · 1994 · 32 citations · 3 references
MedicineDiagnostic SciencesPediatric Speech-language PathologyCongenital Craniofacial AnomaliesCongenital Head AnomaliesGenetic SyndromesFacial AnomaliesSkeletal AbnormalitiesSyndromic Craniofacial Disorders
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.
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