Autosomal recessive form of whistling face syndrome in sibs

B. Dallapiccola, A. Giannotti, A. Lembo, L. Sagui

Research output: Contribution to journalArticle


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 epreviously 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.

Original languageEnglish
Pages (from-to)542-544
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - 1989


ASJC Scopus subject areas

  • Genetics(clinical)

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