ArticleInternational journal of pediatric endocrinology2014
A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.
Article in International journal of pediatric endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2024Pooled it
- Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report.Children (Basel, Switzerland) · 2022Article
- A Missense Mutation inAnnals of dermatology · 2022Article
- Molecular genetic analysis and growth hormone response in patients with syndromic short stature.BMC medical genomics · 2021Article
- TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.Molecular genetics & genomic medicine · 2020Article
- Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.BMC medical genetics · 2020Article
- Trps1-deficient transplanted skin gave rise to a substantial amount of hair: Trps1 is unnecessary for hair development.Dermatology reports · 2019Article
- Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.BMC medical genetics · 2018Article
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.Italian journal of pediatrics · 2018Review
- Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome.Case reports in pediatrics · 2018Article
- A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.BMC medical genetics · 2017Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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