Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation
- 6 February 2014
- journal article
- case report
- Published by Informa UK Limited in Renal Failure
- Vol. 36 (4), 619-622
- https://doi.org/10.3109/0886022x.2014.882237
Abstract
Introduction: The tricho-rhino-phalangeal syndrome type III (TRPS III) is a rare autosomal dominantly inherited condition. The main clinical features are sparse and slow-growing hair and nails, a pear-shaped nose with a bulbous tip, elongated and flat philtrum, thin upper lip, cone-shaped epiphyses of the phalanges, and short stature. All patients have a point mutation in the TRPS1 gene. Case report: In this paper, we present a 13-year-old female with the typical clinical features of TRPS III, extreme growth retardation, severe deformities of both proximal radii resulting in limited extension of the elbows, and chronic renal failure (CRF) in addition. Molecular diagnostics revealed a missense mutation in exon 6 of TRPS1 that she inherited from her father who is also affected with TRPS III, but does not have CRF. In the index patient, the CRF was found to be due to bilateral renal hypodysplasia (RHD). Conclusion: Beside the renal dysplasia, the girl had severe deformities of the proximal radii – findings which have not been reported so far in TRPS III.Keywords
This publication has 17 references indexed in Scilit:
- Trps1 Functions Downstream of Bmp7 in Kidney DevelopmentJournal of the American Society of Nephrology, 2009
- Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndromeAmerican Journal of Medical Genetics Part A, 2008
- Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type IBritish Journal of Dermatology, 2007
- Genetic approaches to human renal agenesis/hypoplasia and dysplasiaPediatric Nephrology, 2007
- Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33American Journal of Human Genetics, 2007
- Prevalence of Mutations in Renal Developmental Genes in Children with Renal HypodysplasiaJournal of the American Society of Nephrology, 2006
- Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiencyAmerican Journal of Medical Genetics Part A, 2004
- Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturationPediatric Radiology, 1998
- Tricho‐Rhino‐Phalangeal syndrome type II (Langer‐Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletionAmerican Journal of Medical Genetics, 1992
- TRICHORHINOPHALANGEAL SYNDROMEInternational Journal of Dermatology, 1992