Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity.
In this paper, I describe the investigations in three members of an extended consanguineous family from Saudi Arabia, in which nine members show severe mental retardation, long eyelashes, high nasal bridge, underdeveloped malae, low hanging columella, thin upper vermillion, and everted lower vermillion, retrognathia, and an open mouth apparently caused by mandibular dentoalveolar protrusion. Pedigree analysis makes it likely that this is an autosomal recessively inherited disorder. A detailed literature search failed to show a similar entity.
Alkuraya
Fowzan S
FS
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009055:Mouth; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D012529:Saudi Arabia; D055815:Young Adult