An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy

L. I. Al-Gazali, Z. Hamid, J. Hertecant, M. Bakir, D. Nath, A. Kakadekar

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. In one case the syndrome described was lethal. Cases with similar features are reviewed and genetic mutations discussed.

Original languageEnglish
Pages (from-to)79-85
Number of pages7
JournalClinical Dysmorphology
Volume11
Issue number2
DOIs
Publication statusPublished - 2002

Keywords

  • ANOTHER syndrome
  • Bamforth syndrome
  • Choanal atresia
  • Hypothelia/athelia
  • Thyroid gland anomalies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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