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

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Abstract

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 similar malformations. Adult PKD is a common feature in heterozygous females with OFD I. However, fetal PKD has been reported only in a lethal homozygous male. Our observation expands our knowledge about the phenotypic variations of PKD in OFD I.

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Authors and Affiliations

  1. Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi-ken 321–02, Japan, , , , , , JP

    G. Nishimura, Shigeko Kuwashima & Tatsuo Kohno

  2. Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan, , , , , , JP

    Chie Teramoto

  3. Department of Obstetrics, Dokkyo University School of Medicine, Tochigi, Japan, , , , , , JP

    Hiroshi Watanabe

  4. Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, , , , , , JP

    Takeo Kubota

Authors
  1. G. Nishimura
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  2. Shigeko Kuwashima
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  3. Tatsuo Kohno
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  4. Chie Teramoto
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  5. Hiroshi Watanabe
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  6. Takeo Kubota
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Received: 18 May 1998 Accepted: 13 January 1999

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Nishimura, G., Kuwashima, S., Kohno, T. et al. Fetal polycystic kidney disease in oro-facio-digital syndrome type I. Pediatric Radiology 29, 506–508 (1999). https://doi.org/10.1007/s002470050631

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  • DOI: https://doi.org/10.1007/s002470050631

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