Ellis-Yale-Winter syndrome is an exceptionally rare genetic disorder characterized by a distinctive combination of microcephaly, congenital heart defects, unilateral renal hypoplasia, lung segmentation anomalies, and cleft palate. The syndrome was first identified in three female siblings, suggesting a hereditary pattern likely governed by autosomal recessive inheritance. One of whom was a fetus at the time of diagnosis. The two surviving infants were reported to have distinct clinical features associated with the syndrome. At the time of identification, the ages of the sisters were as follows: one was a newborn infant, another was slightly older, and the third was still a fetus. Unilateral renal agenesis was noted in both infants, while hypolobulation of the lungs was observed in the infant and the fetus. Each sister exhibited at least one of several significant features, including cleft palate, hypoplastic alae nasi, preauricular pits, hydranencephaly, short terminal phalanges of the fingers, and neck webbing. These manifestations highlight the complex nature of Ellis-Yale-Winter syndrome and its impact on multiple body systems (Ellis et al. 1996).

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Ellis-Yale-Winter Syndrome

  • Kimia Kazemzadeh,
  • Sepideh Razi

摘要

Ellis-Yale-Winter syndrome is an exceptionally rare genetic disorder characterized by a distinctive combination of microcephaly, congenital heart defects, unilateral renal hypoplasia, lung segmentation anomalies, and cleft palate. The syndrome was first identified in three female siblings, suggesting a hereditary pattern likely governed by autosomal recessive inheritance. One of whom was a fetus at the time of diagnosis. The two surviving infants were reported to have distinct clinical features associated with the syndrome. At the time of identification, the ages of the sisters were as follows: one was a newborn infant, another was slightly older, and the third was still a fetus. Unilateral renal agenesis was noted in both infants, while hypolobulation of the lungs was observed in the infant and the fetus. Each sister exhibited at least one of several significant features, including cleft palate, hypoplastic alae nasi, preauricular pits, hydranencephaly, short terminal phalanges of the fingers, and neck webbing. These manifestations highlight the complex nature of Ellis-Yale-Winter syndrome and its impact on multiple body systems (Ellis et al. 1996).