Literature DB >> 589847

Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome.

C Parloir, J P Fryns, J Deroover, E Lebas, P Goffaux, H van den Berghe.   

Abstract

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short statue, craniofacial dysmorphism and dento-skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity. The possible similarity to another autosomally dominant inherited mental retardation syndrome, "the K.B.G. syndrome" as described by Hermann et al. (1975), is discussed.

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Year:  1977        PMID: 589847     DOI: 10.1111/j.1399-0004.1977.tb00939.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

Review 1.  KBG syndrome.

Authors:  Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2006-12-12       Impact factor: 4.123

  1 in total

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