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Case Reports
. 2008 Feb;1(1):23-25.
doi: 10.1093/ndtplus/sfm012. Epub 2007 Dec 19.

Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1

Steven Dickinson  1 , Susan Carr  1 , Janak de Zoysa  2 , Jonathan Barratt  1
Affiliations
Case Reports

Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1

Steven Dickinson et al. NDT Plus. 2008 Feb.
No abstract available

Keywords: ciliopathies; cystic kidney disease; oral-facial-digital syndrome type 1.

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Figures

Fig. 1
Fig. 1
Craniofacial anomalies of oral-facial-digital syndrome type 1. The patient had scars from previous corrective surgery for a cleft lip and palate and hypoplastic alae nasi.
Fig. 2
Fig. 2
Limb anomalies of oral-facial-digital syndrome type 1. The patient had brachydactyly, variable skin syndactyly and clinodactyly of the right little finger.
Fig. 3
Fig. 3
Renal ultrasound scan demonstrated multiple renal cysts.
See this image and copyright information in PMC

References

    1. Feather SA, Woolf AS, Donnai D, et al. The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet. 1997;6:1163–1167. - PubMed
    1. Toriello HV. Oral-facial-digital syndromes, 1992. Clin Dysmorphol. 1993;2:95–105. - PubMed
    1. Connacher AA, Forsyth CC, Stewart WK. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. J Med Genet. 1987;24:116–118. - PMC - PubMed
    1. Donnai D, Kerzin-Storrar L, Harris R. Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. J Med Genet. 1987;24:84–87. - PMC - PubMed
    1. Feather SA, Winyard PJ, Dodd S, et al. Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. Nephrol Dial Transplant. 1997;12:1354–1361. - PubMed

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