Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation

• Published in: Renal failure Vol. 36; no. 4; p. 619
• Main Authors: Tasic, Velibor, Gucev, Zoran, Ristoska-Bojkovska, Nadica, Janchevska, Aleksandra, Lüdecke, Hermann-Josef
• Format: Journal Article
• Language: English
• Published: England 01-05-2014
• Subjects: Abnormalities, Multiple - genetics; Adolescent; DNA-Binding Proteins - genetics; Female; Fingers - abnormalities; Growth Disorders - genetics; Hair Diseases - genetics; Humans; Kidney - abnormalities; Kidney Failure, Chronic - genetics; Langer-Giedion Syndrome - genetics; Nose - abnormalities; Point Mutation; Radius - abnormalities; Syndrome; Transcription Factors - genetics
• ISSN: 1525-6049
• DOI: 10.3109/0886022X.2014.882237

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.
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).
Beside the renal dysplasia, the girl had severe deformities of the proximal radii - findings which have not been reported so far in TRPS III.