Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers

Norman C. Nevin, Brian G. Craig, H. Connor Mullholland, Frank Casey

Research output: Contribution to journalArticlepeer-review

Abstract

A 'new' syndrome was identified by Mc-Pherson and Clemens [1996: Am J Med Genet 62:58-60] in a brother and sister with bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and complex heart defects. The brother also had a bilobed tongue and the sister had malrotation of the intestine and bifid thumbs. We describe three brothers with similar anomalies apart from the bilobed tongue, maltoration of the intestine, and bifid thumbs. McPherson and Clemens [1996: Am J Med Genet 62:58-60] suggested autosomal recessive inheritance. Our observation of three affected brothers also raises the possibility of X-linked recessive inheritance.

Original languageEnglish
Pages (from-to)412-415
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume73
Issue number4
DOIs
Publication statusPublished - 31 Dec 1997

Keywords

  • Brachycephaly
  • Cleft lip/palate
  • Congenital heart defect
  • Hypertelorism
  • X- linked recessive/autosomal recessive inheritance

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