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Carbimazole embryopathy: an emerging phenotype

Carbimazole embryopathy: an emerging phenotype
Carbimazole embryopathy: an emerging phenotype
Concerns about the safety of carbimazole in pregnancy were raised in 1985. Since this time many reports of children believed to have been affected by carbimazole in utero have appeared in the medical literature. Initial reports were of an increased incidence of scalp defects in the infants of treated mothers, but many other anomalies have now been described. Choanal atresia, gastrointestinal anomalies-particularly esophageal atresia, athelia/hypothelia, developmental delay, hearing loss, and dysmorphic facial features have all been reported. The phenotype associated with exposure to carbimazole appears to be rare but specific with distinctive facial features. We report on two new cases of carbimazole embryopathy with strikingly similar facial features
time, hyperthyroidism, carbimazole, drug therapy, thyrotoxicosis, nose, hearing loss, pregnancy complications, report, agents, incidence, female, literature, child, eyebrows, humans, genetics, mothers, choanal atresia, review, abnormalities, safety, pregnancy, drug-induced, adverse effects, infant, phenotype, ear, therapeutic use, antithyroid agents, etiology, pathology, london, adolescent, exposure
1552-4825
130-135
Foulds, N.
5e153e9f-caae-45f5-b6f0-943bd567558e
Walpole, I.
d41228c1-a6f8-4ac3-b79d-96ba45aebf81
Elmslie, F.
b0a78066-91b7-4072-abe8-af9f0b37dfbb
Mansour, S.
0495f934-3dd9-4aec-b845-cbeb836fc697
Foulds, N.
5e153e9f-caae-45f5-b6f0-943bd567558e
Walpole, I.
d41228c1-a6f8-4ac3-b79d-96ba45aebf81
Elmslie, F.
b0a78066-91b7-4072-abe8-af9f0b37dfbb
Mansour, S.
0495f934-3dd9-4aec-b845-cbeb836fc697

Foulds, N., Walpole, I., Elmslie, F. and Mansour, S. (2005) Carbimazole embryopathy: an emerging phenotype. American Journal of Medical Genetics part A, 132A (2), 130-135. (doi:10.1002/ajmg.a.30418).

Record type: Article

Abstract

Concerns about the safety of carbimazole in pregnancy were raised in 1985. Since this time many reports of children believed to have been affected by carbimazole in utero have appeared in the medical literature. Initial reports were of an increased incidence of scalp defects in the infants of treated mothers, but many other anomalies have now been described. Choanal atresia, gastrointestinal anomalies-particularly esophageal atresia, athelia/hypothelia, developmental delay, hearing loss, and dysmorphic facial features have all been reported. The phenotype associated with exposure to carbimazole appears to be rare but specific with distinctive facial features. We report on two new cases of carbimazole embryopathy with strikingly similar facial features

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More information

Published date: 2005
Keywords: time, hyperthyroidism, carbimazole, drug therapy, thyrotoxicosis, nose, hearing loss, pregnancy complications, report, agents, incidence, female, literature, child, eyebrows, humans, genetics, mothers, choanal atresia, review, abnormalities, safety, pregnancy, drug-induced, adverse effects, infant, phenotype, ear, therapeutic use, antithyroid agents, etiology, pathology, london, adolescent, exposure

Identifiers

Local EPrints ID: 59733
URI: http://eprints.soton.ac.uk/id/eprint/59733
ISSN: 1552-4825
PURE UUID: bb78a54a-1f84-4723-9416-28155567ced1

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Date deposited: 03 Sep 2008
Last modified: 15 Mar 2024 11:17

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Contributors

Author: N. Foulds
Author: I. Walpole
Author: F. Elmslie
Author: S. Mansour

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