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Case Reports
. 2002 Apr;11(2):79-85.
doi: 10.1097/00019605-200204000-00001.

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

Affiliations
Case Reports

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 et al. Clin Dysmorphol. 2002 Apr.

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.

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