title: Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.
abstract: We describe the first case of renal tubular dysgenesis in a newborn female who survived 15 days. The immunohistochemical and lectin binding studies confirmed the lack of proximal tubule differentiation. Electron microscopy showed undifferentiated tubular epithelium. Widely patent cranial fontanels were present in the proposita. The father and sister showed acrocephalosyndactyly Saethre-Chotzen type. The parents were not related and there was no familial history of renal pathology.
authors.affiliation: Istituto di Anatomia ed Istologia Patologica, II Facoltà di Medicina e Chirurgia di Napoli, Naples, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Russo
authors.forename: M
authors.initials: M
authors.lastname: D'Armiento
authors.forename: R
authors.initials: R
authors.lastname: Vecchione
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007687:Kidney Tubules, Proximal / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*