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

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

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

Research output: Contribution to journal › Article › peer-review

11 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 language	English
Pages (from-to)	79-85
Number of pages	7
Journal	Clinical Dysmorphology
Volume	11
Issue number	2
DOIs	https://doi.org/10.1097/00019605-200204000-00001
Publication status	Published - 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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10.1097/00019605-200204000-00001

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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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AU - Al-Gazali, L. I.

AU - Hamid, Z.

AU - Hertecant, J.

AU - Bakir, M.

AU - Nath, D.

AU - Kakadekar, A.

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

KW - ANOTHER syndrome

KW - Bamforth syndrome

KW - Choanal atresia

KW - Hypothelia/athelia

KW - Thyroid gland anomalies

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

Abstract

Keywords

ASJC Scopus subject areas

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