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- Hertel, N T, et al.
(författare)
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Growth hormone treatment in 35 prepubertal children with achondroplasia: A five-year dose-response trial
- 2005
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Ingår i: Acta Pædiatrica. - : Wiley. - 1651-2227 .- 0803-5253. ; 94:10, s. 1402-1410
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Tidskriftsartikel (refereegranskat)abstract
- Background: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. Aim: In a 5-y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children with achondroplasia. Methods: Patients were randomized to either 0.1 IU/kg (n=18) or 0.2 IU/kg (n=17) per day. GH treatment was interrupted for 12 mo after 2 y of treatment in prepubertal patients to study catch-down growth. Mean height SDS (HSDS) at start was -5.6 and -5.2 for the low- and high-dose groups, respectively, and mean age 7.3 and 6.6 y. Results: Mean growth velocity (baseline 4.5/4.6 cm/y for the groups) increased significantly by 1.9/3.6 cm/y during the first year and by 0.5/1.5 cm/y during the second year. During the third year, a decrease of growth velocity was observed at 1.9/1.3 cm/y below baseline values. HSDS increased significantly by 0.6/0.8 during the first year of treatment and in total by 1.3/1.6 during the 5 y of study. Sitting height SDS improved significantly from -2.1/-1.7 to -0.8/0.2 during the study. Body proportion (sitting height/total height) or arm span did not show any significant change. Conclusion: GH treatment of children with achondroplasia improves height during 4 y of therapy without adverse effect on trunk-leg disproportion. The short-term effect is comparable to that reported in Turner and Noonan syndrome and in idiopathic short stature.
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| 6. |
- Maekitie, RE, et al.
(författare)
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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
- 2022
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Ingår i: Frontiers in endocrinology. - : Frontiers Media SA. - 1664-2392. ; 13, s. 845889-
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are still incompletely understood. We report a three-generation Finnish family with an unusual, autosomal dominant form of osteochondrodysplasia and an empty sella. Affected individuals (age range 24–44 years) exhibit unusual codfish-shaped vertebrae, severe early-onset and debilitating osteoarthritis and an empty sella without endocrine abnormalities. Clinical characteristics also include mild dysmorphic features, reduced sitting height ratio, and obesity. Whole-exome sequencing excluded known skeletal dysplasias and identified a novel heterozygous missense mutation c.899C>T (p.Thr300Met) in TBX2, confirmed by Sanger sequencing. TBX2 is important for development of the skeleton and the brain and three prior reports have described variations in TBX2 in patients portraying a complex phenotype with vertebral anomalies, craniofacial dysmorphism and endocrine dysfunctions. Our mutation lies near a previously reported disease-causing variant and is predicted pathogenic with deleterious effects on protein function. Our findings expand the current spectrum of skeletal dysplasias, support the association of TBX2 mutations with skeletal dysplasia and suggest a role for TBX2 in development of the spinal and craniofacial structures and the pituitary gland.
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| 8. |
- MAKITIE, O, et al.
(författare)
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Cartilage-hair hypoplasia
- 1995
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Ingår i: Journal of medical genetics. - 0022-2593. ; 32:1, s. 39-43
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Tidskriftsartikel (refereegranskat)
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| 10. |
- Makitie, O, et al.
(författare)
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Growth in diastrophic dysplasia
- 1997
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Ingår i: The Journal of pediatrics. - 0022-3476. ; 130:4, s. 641-646
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Tidskriftsartikel (refereegranskat)
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