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Review
. 2000 Apr;9(2):87-91.
doi: 10.1097/00019605-200009020-00002.

The KBG syndrome

S F Smithson  1 , E M Thompson, A G McKinnon, I S Smith, R M Winter
Affiliations
Review

The KBG syndrome

S F Smithson et al. Clin Dysmorphol. 2000 Apr.

Abstract

We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.

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