title: Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy.
abstract: We describe a 20-week-old fetus with multiple congenital anomalies exposed to acitretin in the first trimester of pregnancy. Acitretin and its ethylester etretinate are both vitamin A congeners; drugs of this group are well-known teratogenic agents. Since the marketing of acitretin only one report on human teratogenicity associated with acitretin has been published. The present male fetus showed severe symmetric anomalies of upper and lower limbs, craniofacial anomalies, ear anomalies, and an atrioventricular septal defect (ASD). Although the craniofacial anomalies resemble the abnormalities described in classical "retinoic acid embryopathy," limb anomalies were seldomly reported after maternal use of vitamin A congeners. However, in laboratory animals limb defects were frequently observed after retinoid exposure in utero. This case emphasizes again that extreme care and precaution are needed before prescribing a potentially teratogenic drug to a fertile woman.
authors.affiliation: Department of Clinical Genetics, University Hospital Maastricht, Netherlands.
authors.forename: C E
authors.initials: CE
authors.lastname: de Die-Smulders
authors.forename: M C
authors.initials: MC
authors.lastname: Sturkenboom
authors.forename: J
authors.initials: J
authors.lastname: Veraart
authors.forename: C
authors.initials: C
authors.lastname: van Katwijk
authors.forename: P
authors.initials: P
authors.lastname: Sastrowijoto
authors.forename: E
authors.initials: E
authors.lastname: van der Linden
mesh_terms: D000014:Abnormalities, Drug-Induced; D017255:Acitretin / Q000009:adverse effects*; D000328:Adult; D001132:Arm / Q000002:abnormalities / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000139:chemically induced*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy*; D007641:Keratolytic Agents / Q000009:adverse effects*; D007866:Leg / Q000002:abnormalities / Q000000981:diagnostic imaging; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy*; D011261:Pregnancy Trimester, First; D011859:Radiography
chemical_list: D007641:Keratolytic Agents; D017255:Acitretin