Case Reports
doi: 10.1007/s002470050631.
Fetal polycystic kidney disease in oro-facio-digital syndrome type I
Affiliations
- PMID: 10398784
- DOI: 10.1007/s002470050631
Item in Clipboard
Case Reports
Fetal polycystic kidney disease in oro-facio-digital syndrome type I
Pediatr Radiol.
1999 Jul.
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.
Similar articles
-
Oral-facial-digital syndrome type I in a newborn male.Am J Med Genet. 1993 May 15;46(3):335-8. doi: 10.1002/ajmg.1320460318. Am J Med Genet. 1993. PMID: 8488880
-
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.Am J Med Genet. 1998 Feb 3;75(4):389-94. Am J Med Genet. 1998. PMID: 9482645 Review.
-
Prenatal diagnosis of episodic tachypnea in an infant with OFD VI.Am J Med Genet A. 2006 Oct 1;140(19):2146-9. doi: 10.1002/ajmg.a.31406. Am J Med Genet A. 2006. PMID: 16906567
-
Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?Genet Couns. 2005;16(1):101-5. Genet Couns. 2005. PMID: 15844787
-
[Orofaciodigital syndrome type I in a mother and daughter].An Esp Pediatr. 1988 Jan;28(1):59-62. An Esp Pediatr. 1988. PMID: 3279888 Review. Spanish.
Cited by
-
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?Plast Surg (Oakv). 2014 Winter;22(4):229-32. doi: 10.4172/plastic-surgery.1000895. Plast Surg (Oakv). 2014. PMID: 25535458 Free PMC article.
-
The pathogenesis of the clinical features of oral-facial-digital syndrome type I.Saudi Med J. 2015 Nov;36(11):1277-84. doi: 10.15537/smj.2015.11.12446. Saudi Med J. 2015. PMID: 26593159 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
