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

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 526-533

  Gripp, Karen W ^a   Kuryan, Ranita ^a   Schnur, Rhonda E ^b   Kothawala, Murtuza ^b   Davey, Lauren R ^a   Antunes, Michael J ^c   Reichard, Kirk W ^a   Schneider, Adele ^d   Hall, Bryan D ^e  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b Division of Female Pelvic Medicine and Reconstructive Surgery   (United States)

^c CHRISTIANA HOSPITAL   (United States)

^d ALBERT EINSTEIN MEDICAL CENTER   (United States)

^e UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Cutis aplasia; Iris coloboma; Microtia; Retinal coloboma; Tracheo esophageal fistula

Indexed keywords

FLUOXETINE; FOLIC ACID; LEVOTHYROXINE SODIUM; PROPRANOLOL; PROPYLTHIOURACIL; THIAMAZOLE; VITAMIN;

ANTERIOR FONTANEL; APGAR SCORE; ARTICLE; ATHELIA; BIRTH WEIGHT; CHOANA ATRESIA; CLINICAL ARTICLE; CLINODACTYLY; DEVELOPMENTAL DISORDER; DRUG DOSE REDUCTION; EAR MALFORMATION; EMBRYOPATHY; FACE DYSMORPHIA; FEMALE; GASTROINTESTINAL MALFORMATION; GESTATIONAL AGE; HEARING LOSS; HUMAN; HYPERTHYROIDISM; INFANT; IRIS COLOBOMA; KARYOTYPE 46,XX; MALE; MICROTIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SKIN APLASIA; SYNDACTYLY; THYROIDECTOMY; TRACHEOESOPHAGEAL FISTULA; VITAMIN SUPPLEMENTATION;

CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; CRANIAL FONTANELLES; EAR; FACIES; FEMALE; FETAL DISEASES; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHIMAZOLE; PREGNANCY; TRACHEOESOPHAGEAL FISTULA;

FISTULA;

EID: 79951980590     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33705     Document Type: Article

References (25)

1. Aramaki M, Hokuto I, Matsumoto T, Ishimoto H, Inoue M, Kimura T, Oikawa Y, Ikeda K, Yoshimura Y, Takahashi T, Kosaki K. 2005. Iridic and retinal coloboma associated with prenatal methimazole exposure. Am J Med Genet Part A 139A: 156-158.
2. Barbero P, Ricagni C, Mercado G, Bronberg R, Torrado M. 2004. Choanal atresia associated with prenatal methimazole exposure: Three new patients. Am J Med Genet Part A 129A: 83-86.
3. Barbero P, Valdez R, Rodriguez H, Tiscornia C, Mansilla E, Allons A, Coll S, Liascovich R. 2008. Choanal atresia associated with maternal hyperthyroidism treated with methimazole: A case-control study. Am J Med Genet Part A 146A: 2390-2395.
4. Barwell J, Fox G, Round J, Berg J. 2002. Choanal atresia: The result of maternal thyrotoxicosis or fetal carbimazole? Am J Med Genet 111: 55-56.
5. Clementi M, Di Gianantionio E, Pelo E, Mammi I, Basile RT, Tenconi R. 1999. Methimazole embryopathy: Delineation of the phenotype. Am J Med Genet 83: 43-46.
6. Foulds N, Walpole I, Elmslie F, Mansour S. 2005. Carbimazole embryopathy: An emerging phenotype. Am J Med Genet Part A 132A: 130-135.
7. Di Gianantonio E, Schaefer C, Mastroiacovo PP, Cournot MP, Benedicenti F, Reuvers M, Occupati B, Robert E, Bellemin B, Addis A, Arnon J, Clementi M. 2001. Adverse effects of prenatal methimazole exposure. Teratology 64: 262-266.
8. Greenberg F. 1987. Choanal atresia and athelia: Methimazole teratogenicity or a new syndrome. Am J Med Genet 28: 931-934.
9. Hall BD. 1997. Methimazole as a teratogenic etiology of choanal atresia/multiple congenital anomaly syndrome [abstract 557]. Am J Hum Genet 61: A100.
10. Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. 2009. Elements of Morphology: Standard terminology for the ear. Am J Med Genet Part A 149A: 40-60.
11. Jansson R, Dahlberg PA, Lindström B. 1983. Comparative bioavailability of carbimazole and methimazole. Int J Clin Pharmacol Ther Toxicol 10: 505-510.
12. Johnsson E, Larsson G, Ljunggren M. 1997. Severe malformations in infant born to hyperthyroid woman on methimazole. Lancet 350: 1520.
13. Kalb RE, Grossman ME. 1986. The association of aplasia cutis congenita with therapy of maternal thyroid disease. Pediatr Dermatol 3: 327-330.
14. Karlsson FA, Axelsson O, Melhus H. 2002. Severe embryopathy and exposure to methimazole in early pregnancy. J Clin Endocrinol Metab 87: 946-951.
15. Martin-Denavit T, Edery P, Plauchu H, Attia-Sobol J, Raudrant D, Aurand JM, Thomas L. 2000. Ectodermal abnormalities associated with methimazole intrauterine exposure. Am J Med Genet 94: 338-340.
16. Megarbane A, Chouery E, Rassi S, Delague V. 2005. A new autosomal recessive oto-facial syndrome with midline malformations. Am J Med Genet Part A 132A: 398-401.
17. Milham S. 1985. Scalp defects in infant of mothers for hyperthyroidism treated with methimazole or carbimazole during pregnancy. Teratology 2: 321.
18. Milham S, Elledge W. 1972. Maternal methimazole and congenital defects in children. Teratology 5: 125-126.
19. Momotani N, Ito K, Hamada N, Ban Y, Nishikawa Y, Mimura T. 1984. Maternal hyperthyroidism and congenital malformation in the off-spring. Clin Endocrinol 20: 695-700.
20. Mujtaba Q, Burrow GN. 1975. Treatment of hyperthyroidism in pregnancy with propylthiouracil and methimazole. Obstet Gynecol 46: 282-286.
21. Ramirez A, Espinosa de los Monteros A, De Parra A, Leon B. 1992. Esophageal atresia and tracheoesophageal fistula in two infants born to hyperthyroid women receiving methimazole (Tapazol®) during pregnancy. Am J Med Genet 44: 200-202.
22. Sargent KA, Stopfer JE, Mallozzi AE, Khandelal M, Quashie C, Schneider AS. 1994. Apparent scalp-ear-nipple (Finlay) syndrome in a neonate exposed to methimazole in-utero. Am J Hum Genet 55: A312.
23. Valdez RM, Barbero PM, Liascovich RC, De Rosa LF, Aguirre MA, Alba LG. 2007. Methimazole embryopathy: A contribution to defining the phenotype. Reprod Toxicol 2: 253-255.
24. Van Dijke CP, Heydendael RJ, De Kleine MJ. 1987. Methimazole, carbimazole, and congenital skin defects. Ann Intern Med 106: 60-61.
25. Wilson LC, Kerr BA, Wilkinson R, Fossard C, Donnai D. 1998. Choanal atresia and hypothelia following methimazole exposure in utero: A second report. Am J Med Genet 75: 220-222.