Affiliations: Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, SP, Brazil | Program of Postgraduate in Science of Rehabilitation, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, SP, Brazil
Note: [] Corresponding author: Dr. Siulan Vendramini-Pittoli, Departamento de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, USP, CEP 17012-900, Bauru, SP, Brazil. Tel.: +55 0151432358022; Fax: +55 0151432347818; E-mail: siulan@usp.br; nancykn@usp.br.
Abstract: The authors describe the clinical findings of 38 children with congenital anomalies and misoprostol intrauterine exposure. This study included 38 cases, ascertained from case series of the Hospital of Rehabilitation of Craniofacial Anomalies from University of São Paulo, with evidence of intrauterine exposure to misoprostol in the first trimester of the pregnancy. Information about misoprostol intake and drug administration route was obtained through interviews with mothers. Clinical evaluation showed 18 individuals with facial phenotype compatible with Moebius syndrome; 11 individuals with multiple congenital anomalies; and nine individuals with nonsyndromic cleft lip and/or cleft palate. This study showed a widening of the phenotypic spectrum associated with misoprostol embryotoxicity.
Keywords: Misoprostol exposure, cranial nerve palsy, congenital anomalies, cleft lip and palate, first and second pharyngeal arches, central nervous system anomalies