...Judith S. Renes; Theo C.J. Sas; Agnes Clement-de Boers; Nitash Zwaveling-Soonawala; Sabine E. Hannema; Janiëlle A.E.M. van der Velden; Daniëlle C.M. van der Kaay; Anita C.S. Hokken-Koelega Introduction: Pycnodysostosis is an extremely rare skeletal dysplasia caused by cathepsin K deficiency...

...Guido de Paula Colares Neto; Crésio de Aragão Dantas Alves Background: Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis...

..., instructions or products referred to in the content or advertisements. NTproCNP Height velocity Endochondral bone growth Growth hormone Skeletal dysplasia Biomarker After the discovery of the crucial role of C-type natriuretic peptide (CNP) in stimulating endochondral bone growth...

... 2017 National Institutes of Health (NIH) 10.13039/100000002 Short stature Growth plate Idiopathic short stature Skeletal dysplasia Genome sequencing © 2017 S. Karger AG, Basel 2017 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part...

..., rhGH treatment increased Ht from -5.0 to -4.0 SDS during 5 years, but insufficient data are available on both the adult Ht and the changes of body proportions. Skeletal dysplasias often cause severe growth failure. Among them, achondroplasia (OMIM 100800; ACH) is the most common genetic form...

... a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their endocrinologist with progressive growth failure and severe short stature (-5 SDS). They had no comorbid conditions and, on physical examination, there were no signs of an overt skeletal dysplasia with normal...

... by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients. Aims: To describe a cohort of WRS patients and discuss the pattern and management of their liver disease. Methods: Detailed phenotyping and direct...

... acromesomelic dysplasia type Maroteux, a skeletal dysplasia with extremely short stature. Heterozygous mutations in NPR2 are responsible for nonsyndromic familial short stature. Conversely, heterozygous gain-of-function mutations in NPR2 cause tall stature, with a variable phenotype. A phase 2 multicenter...

... or skeletal dysplasias associated with short stature that have had a causal gene identified, and this list is rapidly expanding. Studies have also revealed an increased burden of copy number variants (CNVs), particularly of rare deletions, in patients with short stature [ 5, 6, 7 ]. Thus, rare genetic...

... and Methods: Short GH-treated prepubertal children [n = 456; height (Ht) SD score (SDS) ≤–2] with idiopathic GH deficiency (IGHD, n = 173), idiopathic short stature (ISS, n = 37), small for gestational age (SGA, n = 54), organic GHD (OGHD, n = 40), Turner syndrome (TS, n = 43), skeletal dysplasia (n = 15...

...N.A. Bridges; C.G.D. Brook Growth hormone is not a logical treatment for the short stature associated with skeletal dysplasia because growth hormone concentrations are normal in these individuals. Short-term trials of growth hormone have demonstrated an increase in growth velocity in most...

...N.A. Bridges; P.C. Hindmarsh; C.G.D. Brook Hypochondroplasia is a skeletal dysplasia characterised by poor childhood growth and an inadequate pubertal growth spurt. 31 children with a radiological diagnosis of hypochondroplasia have been treated for up to 3 years with recombinant human growth...

...Lars Hagenäs; Thomas Hertel Skeletal dysplasias comprise a diverse group of conditions that usually compromise both linear growth and body proportions. It is of theoretical interest to evaluate the effect of GH treatment on linear growth, body proportion and final height in the different skeletal...