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Prenatal exposure to penicillamine and oral clefts: Case report

✍ Scribed by Mart�nez-Fr�as, M.L.; Rodr�guez-Pinilla, E.; Bermejo, E.; Blanco, M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 3 KB
Volume: 76
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980319)76:3<274::aid-ajmg13>3.0.co;2-e

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✦ Synopsis

We would like to present a patient derived from the Spanish Collaborative Study of Congenital Malformations (ECEMC) , who was exposed to penicillamine during the entire pregnancy. The infant, a girl, was born at 41 weeks of gestation to a G3P2, 22-year-old mother and a nonconsanguineous 28-year-old father. The mother has Wilson disease, which was treated daily with therapeutic doses of penicillamine during the entire pregnancy. The pregnancy was complicated only by scant vaginal bleeding. There was no other exposure to known teratogens or risk factors. The girl, who was the first affected individual in the family, had bilateral cleft lip with totally cleft palate, and a birth weight of 3,130 g, which is adequate for gestational age. The child did not have lax skin or flexion contractures of the knees or hips.

Penicillamine, a heavy-metal chelator, is used for treatment of cystinuria, rheumatoid arthritis, Wilson disease, and autoimmune diseases [Harris and

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