Literature DB >> 1248177

Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.

M J Harrod, J Stokes, L F Peede, J L Goldstein.   

Abstract

Bilateral polycystic kidneys and chronic renal failure were observed in a 48-year-old woman with the classic clinical features of the oral-facial-digital syndrome, Type I (OFD-I). Since this association has been previously reported in two other patients, these findings suggest that polycystic kidneys may be a hitherto unrecognized manifestation of the oral-facial-digital syndrome.

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Year:  1976        PMID： 1248177     DOI： 10.1111/j.1399-0004.1976.tb01565.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

1.  Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

Authors:  Shilpa Chetty-John; Katie Piwnica-Worms; Joy Bryant; Isa Bernardini; Roxanne E Fischer; Theo Heller; William A Gahl; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

2.  Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Authors:  Mohammad M Al-Qattan; K Javed
Journal:  Plast Surg (Oakv)       Date:  2014       Impact factor: 0.947

3.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

Authors:  D Donnai; L Kerzin-Storrar; R Harris
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

5.  Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

Authors:  A A Connacher; C C Forsyth; W K Stewart
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

6.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

Authors:  K H Orstavik; S E Tangsrud; T Nordshus; A M Finnanger; C Hellum; E Gjessing
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

8.  A male with type I orofaciodigital syndrome.

Authors:  J Goodship; J Platt; R Smith; J Burn
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

Review 9.  Oral and craniofacial clinical signs associated to genetic conditions in human identification part I: a review.

Authors:  Fouad Ayoub; Nicole Aoun; Hassan El Husseini; Houssam Jassar; Fida Sayah; Ziad Salameh
Journal:  J Int Oral Health       Date:  2015-05

10.  An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.

Authors:  Sheena Sharma; Jennifer M Kalish; Ethan M Goldberg; Francis Jeshira Reynoso; Madhura Pradhan
Journal:  Case Rep Nephrol       Date:  2016-08-29
  10 in total

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