Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy

Carbimazole (CMZ) and its active metabolite methimazole (MMI) are antithyroid medications, which can result in MMI/CMZ embryopathy in susceptible individuals. The incidence of birth defects related to MMI/CMZ embryopathy remains unclear as several epidemiologic studies failed to prove a correlation,...

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Published in:	American journal of medical genetics. Part A Vol. 155A; no. 3; pp. 526 - 533
Main Authors:	Gripp, Karen W., Kuryan, Ranita, Schnur, Rhonda E., Kothawala, Murtuza, Davey, Lauren R., Antunes, Michael J., Reichard, Kirk W., Schneider, Adele, Hall, Bryan D.
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-03-2011 Wiley-Liss
Subjects:	Anterior fontanel Aplasia Biological and medical sciences Canker Case reports Child, Preschool Choanal atresia Congenital Abnormalities Congenital defects Congenital Microtia Cranial Fontanelles - abnormalities cutis aplasia Dermatology Ear - abnormalities Esophagus Facies Female Fetal Diseases - chemically induced Finger Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue Humans Infant Infant, Newborn iris coloboma Male Malformations of the eye Medical genetics Medical sciences Metabolites Methimazole - adverse effects Microtia Ophthalmology Pneumology Pregnancy Prenatal experience Respiratory system : syndromes and miscellaneous diseases retinal coloboma Scalp Skin Trachea tracheo-esophageal fistula Tracheoesophageal Fistula - chemically induced Tracheoesophageal Fistula - complications Tracheoesophageal Fistula - surgery Urinary bladder Imidazole derivatives Skin disease Esophageal disease Anterior Retina cutis aplasia Tracheoesophageal fistula iris coloboma tracheo-esophageal fistula retinal coloboma Thiamazole Diseases of the trachea Antithyroid agent Iris (eye) Respiratory disease Coloboma Fontanel Congenital disease Pinna Eye disease Embryopathy Aplasia cutis Malformation Digestive diseases Microtia
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Summary:	Carbimazole (CMZ) and its active metabolite methimazole (MMI) are antithyroid medications, which can result in MMI/CMZ embryopathy in susceptible individuals. The incidence of birth defects related to MMI/CMZ embryopathy remains unclear as several epidemiologic studies failed to prove a correlation, despite positive case–control studies and numerous case reports. Malformations reported in exposed individuals and commonly recognized as MMI/CMZ embryopathy include cutis aplasia of the scalp, choanal atresia, esophageal atresia (EA), tracheo‐esophageal fistula (TEF), persistent vitelline duct, athelia/hypothelia, and subtle facial dysmorphisms including sparse or arched eyebrows. Here, we report on individuals with early pregnancy exposure to MMI, with microtia and various other anomalies associated with MMI embryopathy, suggesting that microtia is also seen with increased frequency after prenatal MMI exposure. Additional unusual malformations among our patients include a previously unreported type of TEF with three separate esophageal pouches and a fistula connecting the middle pouch to the trachea in one child, and absence of the gall bladder in another. An enlarged anterior fontanel was seen in three patients, and clinodactyly of the fifth finger was noted in three. The similarities between our three patients with microtia after MMI exposure and the two previously reported with microtia after CMZ exposure support the concept of microtia being related to the MMI/CMZ exposure. Recognition of microtia as a manifestation of MMI/CMZ embryopathy will likely increase the number of diagnosed cases and thus affect ascertainment. We propose diagnostic criteria for MMI/CMZ embryopathy, including the presence of at least one major characteristic finding. © 2011 Wiley‐Liss, Inc.
Bibliography:	How to Cite this Article: Gripp KW, Kuryan R, Schnur RE, Kothawala M, Davey LR, Antunes MJ, Reichard KW, Schneider A, Hall BD. 2011. Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy. Am J Med Genet Part A 155: 526-533. ArticleID:AJMG33705 ark:/67375/WNG-PQDJ8G1H-G istex:3B9213199A183A446FC481C65D2632A28B72CCB0 How to Cite this Article: Gripp KW, Kuryan R, Schnur RE, Kothawala M, Davey LR, Antunes MJ, Reichard KW, Schneider A, Hall BD. 2011. Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy. Am J Med Genet Part A 155: 526–533. ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.33705