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

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.

• Authors: L I Al-Gazali, Z Hamid, J Hertecant, M Bakir, D Nath, A Kakadekar
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 11 Issue 2 Pg. 79-85 (Apr 2002) ISSN: 0962-8827 [Print] England
• PMID: 12002153 (Publication Type: Case Reports, Journal Article)

Chemical References

• Methimazole

Topics

• Abnormalities, Multiple (chemically induced, genetics)
• Child, Preschool
• Choanal Atresia (genetics, pathology)
• Congenital Hypothyroidism
• Facies
• Female
• Genes, Recessive
• Humans
• Infant
• Infant, Newborn
• Male
• Methimazole (adverse effects)
• Nipples (abnormalities)
• Syndrome
• Thyroid Gland (abnormalities)