Dallapiccola B, Giannotti A, Lembo A, Saguì L
Department of Public Health and Cell Biology, IInd University of Rome, Italy.
Am J Med Genet. 1989 Aug;33(4):542-4. doi: 10.1002/ajmg.1320330426.
Two sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations. Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.
本文介绍了一对患有吹口哨面容综合征的同胞兄妹，他们的父母均未患病。他们具有该疾病典型的全面部和肢体表现，有证据表明其为常染色体显性遗传。此前基于有限的观察结果，曾怀疑存在该综合征的常染色体隐性形式。我们的研究证实了这种情况的遗传异质性，并表明常染色体隐性形式可能比普遍认为的更为常见。
