Marks M L, Trippel D L, Keating M T
Department of Human Genetics, Eccles Program of Human Molecular Biology and Genetics, University of Utah Health Sciences Center, Salt Lake City, USA.
Am J Cardiol. 1995 Oct 1;76(10):744-5. doi: 10.1016/s0002-9149(99)80216-1.
The identification of female children with this syndrome is evidence that this disorder is not X-linked in inheritance. Possible inheritance modes still include autosomal recessive or, more likely, a de novo mutation, given the absence of family history in any of the patients. Children of both sexes with syndactyly should be screened with an electrocardiogram for this syndrome. Female children with this syndrome may have an increased risk of sudden death similar to male children.
患有这种综合征的女童的确诊证明该疾病在遗传上不是X连锁的。鉴于所有患者均无家族病史，可能的遗传模式仍包括常染色体隐性遗传，或者更有可能是新发突变。患有并指（趾）畸形的男女儿童都应通过心电图检查来筛查这种综合征。患有这种综合征的女童可能与男童一样有猝死风险增加的情况。
