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Renal anomalies and lymphedema distichiasis syndrome. A rare association?
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Aug; Vol. 173 (8), pp. 2251-2256. Date of Electronic Publication: 2017 May 23. - Publication Year :
- 2017
-
Abstract
- Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.<br /> (© 2017 Wiley Periodicals, Inc.)
- Subjects :
- Adult
Chromosomes, Human, Pair 16
Congenital Abnormalities diagnosis
Congenital Abnormalities physiopathology
Eyelashes physiopathology
Female
Frameshift Mutation
Humans
Infant
Infant, Newborn
Kidney physiopathology
Kidney Diseases complications
Kidney Diseases diagnosis
Kidney Diseases genetics
Kidney Diseases physiopathology
Lymphedema complications
Lymphedema diagnosis
Lymphedema physiopathology
Male
Middle Aged
Pedigree
Congenital Abnormalities genetics
Eyelashes abnormalities
Forkhead Transcription Factors genetics
Kidney abnormalities
Kidney Diseases congenital
Lymphedema genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 173
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 28544699
- Full Text :
- https://doi.org/10.1002/ajmg.a.38293