关键词: Asphyxiating thoracic dystrophy Jeune syndrome ciliopathy dwarphism nephronophthisis oligohydramnios renal cyst

来  源:   DOI:10.1002/ccr3.85   PDF(Sci-hub)

Abstract:
UNASSIGNED: We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal failure), expanding the phenotype consistent with the continuum of syndromic ciliopathies.
摘要:
暂无翻译
公众号