We report a rare case of frontonasal dysplasia combined with bilateral amastia. A 20-year-old woman presented with multiple congenital anomalies, including a median cleft lip (forme fruste), epicanthus, saddle nose, cleft palate, choanal atresia, complete bilateral amastia-absence of mammary tissue and nipple-areola complexes-and intestinal atresia. She underwent staged facial reconstruction in childhood and implant-based breast reconstruction in adulthood. The few previous reports describing similar combinations of midline facial anomalies and amastia document familial occurrence. Because this constellation differs from established syndromes that include amastia, we suspect a specific genetic cause that future research should aim to identify. This case also underscores the general principle that the presence of developmental malformations should prompt screening for additional anomalies.
Kuriyama et al. (Thu,) studied this question.