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In 1968, Winter and colleagues reported a familial syndrome for the first time in four female siblings: two had abnormal facial features, renal anomalies, vaginal atresia, and deafness from middle ear defects, while two died during the neonatal period of renal agenesis (Jeremy Winter et al. 1968). Renal, genital, and middle ear anomalies is an extreme rare disorder characterized by malformation in three main systems: renal anomalies, genital anomalies, and middle ear anomalies (Fig. 1) (Jeremy Winter et al. 1968; Turner 1970). The incidence and prevalence of this syndrome are unknown (GARD 2025). Age of onset is typically at birth but hearing loss might be diagnosed in infancy or early childhood (Jeremy Winter et al. 1968; Turner 1970).

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Renal, Genital, and Middle Ear Anomalies

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Asmae Akbari,
  • Nima Rezaei

摘要

In 1968, Winter and colleagues reported a familial syndrome for the first time in four female siblings: two had abnormal facial features, renal anomalies, vaginal atresia, and deafness from middle ear defects, while two died during the neonatal period of renal agenesis (Jeremy Winter et al. 1968). Renal, genital, and middle ear anomalies is an extreme rare disorder characterized by malformation in three main systems: renal anomalies, genital anomalies, and middle ear anomalies (Fig. 1) (Jeremy Winter et al. 1968; Turner 1970). The incidence and prevalence of this syndrome are unknown (GARD 2025). Age of onset is typically at birth but hearing loss might be diagnosed in infancy or early childhood (Jeremy Winter et al. 1968; Turner 1970).