Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia

Maria A. Ramos-Arroyo, Alberto Valiente, Elias Rodriguez-Toral, Angel M. Alonso, Sira Moreno, David D. Weaver

Research output: Contribution to journalArticle

5 Scopus citations


We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychomotor development was appropriate for age. Roentgenocephalometric analyses of several relatives showed that one grandfather of these children and two of the five uncles and aunts also had maxillary hypoplasia and/or prognathism. To our knowledge, this condition has not been described previously and may represent a newly recognized autosomal dominant condition with incomplete penetrance and variable expressivity caused by a defect of neural crest development. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)237-240
Number of pages4
JournalAmerican journal of medical genetics
Issue number3
StatePublished - Nov 27 2000


  • Autosomal dominant
  • Birth defect
  • Facial bones
  • Syndrome
  • Teeth

ASJC Scopus subject areas

  • Genetics(clinical)

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