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Case Reports
. 2014;2014(1):16.
doi: 10.1186/1687-9856-2014-16. Epub 2014 Aug 15.

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature

Lina Merjaneh  1 , John S Parks  1 , Andrew B Muir  1 , Doris Fadoju  1
Affiliations
Case Reports

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature

Lina Merjaneh et al. Int J Pediatr Endocrinol. 2014.

Abstract

The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses and hip dysplasia. It is inherited in an autosomal dominant manner and caused by haploinsufficiency of the TRPS1 gene. We report a family (Mother and 3 of her 4 children) with a novel mutation in the TRPS1 gene. The diagnosis was suspected only after meeting all family members and comparing affected and unaffected siblings since the features of this syndrome might be subtle. The eldest sibling, who had neither GH deficiency nor insensitivity, improved his growth velocity and height SDS after 2 years of treatment with exogenous GH. No change in growth velocity was observed in the untreated siblings during this same period. This report emphasizes the importance of examining all family members when suspecting a genetic syndrome. It also demonstrates the therapeutic effect of GH treatment in TRPS I despite normal GH-IGF1 axis. A review of the literature is included to address whether TRPS I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive short stature. More studies are needed before recommending GH treatment for TRPS I but a trial should be considered on an individual basis.

Keywords: Conical epiphyses; Growth hormone; Hip dysplasia; Missense mutation; Nonsense mutation; Sparse eyebrows; TRPS1; Trichorhinophalangeal syndrome type I.

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Figures

Figure 1
Figure 1
Bone age radiograph of patient’s younger brother showing the cone shaped epiphyses with diffuse shortening of the phalanges.
Figure 2
Figure 2
Growth chart of patient before and after starting growth hormone. F: father’s height, M: mother’s height. MPH: midparental height.
See this image and copyright information in PMC

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