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Antley–Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity

To the Editor: Since the first report of a patient by Antley and Bixler in 1975 (1), more than 45 patients with Antley–Bixler syndrome (ABS, OMIM No. 207410) have been reported to date (2–5). All of the patients with this syndrome had characteristic dysmorphic facies caused by craniofacial dysostosis as well as multiple limb contractures including radiohumeral synostosis and arachnodachtyly. In addition, almost half of them had genital abnormalities, such as vaginal atresia and hypertrophic clitoris (5). More variables were other features, such as mental retardation and congenital respiratory dysfunction (6, 7). Yasui et al. (8) reported an affected child from a consanguineous mating, suggesting autosomal recessive inheritance of ABS. Here we report on a patient with ABS whose mother experienced virilization during pregnancy. A 6-month-old girl was referred to our department for evaluation of multiple congenital anomalies. She is the first baby to healthy and non-consanguineous Japanese parents. At 2months of gestation, her mother was admitted to a hospital because of threatened abortion, and was managed with Isoxsuprine HCl. This medication was continued for a month after discharge. During the same period, she started to use a potent steroid ointment on both hands at a dosage of about 5 g per week because of contact dermatitis. The steroid ointment was used throughout the pregnancy. At 3 months of gestation, she developed generalized edema, swelling of the gingiva, nose, and lips. In addition to these symptoms, she developed hoarseness of the voice at 6 months. At 8 months, she had threatened abortion again and was admitted to another hospital. Because of general fatigue, thirst, soreness of throat, and polyuria, she was kept bedridden for the rest of the gestational period. Although swelling of both ovaries were seen on abdominal ultrasonography, further examination was not performed. She had no sign of polytrichia. Body weight was 49 kg before pregnancy and was 63.2 kg just before delivery. Soon after delivery, all symptoms disappeared except for hoarseness of the voice. Our patient was delivered at 39 gestational weeks with an Apgar score of 8. At birth, she weighed 3100 g with length 49 cm, and head cir-