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Article

Fetal polycystic kidney disease in oro-facio-digital syndrome type I.

Pediatric radiology - 1 Jul 1999

Nishimura G, Kuwashima S, Kohno T, Teramoto C, Watanabe H, Kubota T

Abstract excerpt

We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dominant disorder, which is lethal in males, was achieved by recognition of facial dysmorphism, lingual hamartomas, postaxial polydactyly, brain malformations, and the existence of her deceased male sibling with...

Topics

Female
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Orofaciodigital Syndromes
Phenotype
Polycystic Kidney, Autosomal Dominant
Ultrasonography, Prenatal

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 10398784
DOI: 10.1007/s002470050631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-10398784-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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