Verloes A
Center for Human Genetics, Liège University/Belgium.
Genet Couns. 1994;5(3):283-7.
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.
我们在此报告一名患有HMC综合征的新患者，其父母为近亲结婚。这一病例证实了HMC综合征作为一种罕见的常染色体隐性疾病的存在，此前仅发表过五例相关病例。亲属中出现面部裂隙可能代表杂合子的部分表现，这可能表明HMC综合征是其中一种导致裂隙的基因的纯合状态。
