Am J Med Genet. 1991 Jun 15;39(4):482-5.

Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.

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Istituto di Anatomia ed Istologia Patologica, II Facoltà di Medicina e Chirurgia di Napoli, Naples, Italy.

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.

PMID:: 1877630; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

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