Hypertelorism-microtia-clefting (HMC) syndrome.
We present here a new patient with the HMC syndrome, born from consanguineous parents. This observation confirms the existence of the HMC syndrome as a rare autosomal recessive disease, of which only five previous instances have been published previously. The occurrence of facial clefts in relatives may represent partial expression in the heterozygotes, and may indicate that HMC syndrome is the homozygous state for one of the clefting genes.
Verloes
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Center for Human Genetics, Liège University/Belgium.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D013577:Syndrome