Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Extreme short stature"'
Publikováno v:
American Journal of Medical Genetics. Part a
Clinical surveillance of infants and children with achondroplasia necessitates syndrome‐specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below normal population ranges. We pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de71d9a9b2ce7479bc728256bcb11b79
https://doi.org/10.1002/ajmg.a.61974
https://doi.org/10.1002/ajmg.a.61974
Autor:
Andrew Dauber, Vivian Hwa, Philippe Backeljauw, Ron G. Rosenfeld, Helen L Storr, Corinne Foley, Sumana Chatterjee, Louise A. Metherell, Martin O. Savage
Publikováno v:
Endocrine reviews. 40(2)
GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is associated with extreme short stature and dysmorphic and metabolic abnormalities. In recent years, the clinical, biochemical, and genetic characteristics of GH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39e70a97b210f256ece9d30fa934ad4
https://pubmed.ncbi.nlm.nih.gov/30265312
https://pubmed.ncbi.nlm.nih.gov/30265312
Publikováno v:
Journal of Medical Devices. 8
Several surgical techniques and devices have been developed to help patients born with limb deformities, limb length inequalities, and extreme short stature. People with such ailments often experience pain, dysfunction, and joint degeneration. The pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7aad570822e8641f67669f3c67f3f5ac
https://doi.org/10.1115/1.4027000
https://doi.org/10.1115/1.4027000
Publikováno v:
American Journal of Medical Genetics. 63:80-83
In three sibs of Jordanian descent a unique type of severe spondylo-meta-epiphyseal dysplasia results in extreme disproportion- ate dwarfism. They have a distinct facial appearance with hypotelorism, prognathia, and hypodontia. The limbs are short an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b06e18f41eacda07c095ce5f1ee49a2b
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<80::aid-ajmg16>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<80::aid-ajmg16>3.0.co
Autor:
Chaitanya K Musham, Manmohan K. Kamboj
Publikováno v:
International Journal on Disability and Human Development. 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce0ea581e8818c21b09bb1b7f661cc8e
https://doi.org/10.1515/ijdhd.2009.8.3.317
https://doi.org/10.1515/ijdhd.2009.8.3.317
Publikováno v:
Journal of pediatric orthopedics. 27(8)
Roberts syndrome is a rare autosomal recessive disorder affecting many organs. The marked disabilities are mainly due to extreme short stature and severe limb deformities. Treatment in children who survive focuses on surgical correction of facial and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e80c1cc0e8da1ac8f5b6b9bf6e37fe
https://pubmed.ncbi.nlm.nih.gov/18209617
https://pubmed.ncbi.nlm.nih.gov/18209617
Autor:
Gordon N. Dutton, Martin O. Savage, Wendy F. Paterson, John Tolmie, Malcolm Donaldson, Brian P. Kelly, Cecilia Camacho-Hübner, William Newman
Publikováno v:
Hormone research. 67(2)
Background: Growth hormone (GH) has long been implicated in the pathogenesis of diabetic retinopathy, although its precise role remains ill-defined. In 1998, an association between exogenous human GH and retinal pathology in non-diabetic subjects was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735aa823c328d7563b1e3d3918320b51
https://pubmed.ncbi.nlm.nih.gov/17028441
https://pubmed.ncbi.nlm.nih.gov/17028441
Autor:
Raja Brauner, T. Edouard, E. Lawson-Body, Jean-Claude Souberbielle, Christine Trivin, Graziella Pinto
Publikováno v:
Hormone research. 61(1)
The factors associated with lack of catch-up growth after intrauterine growth retardation (IUGR) are unknown. Objective: To identify these factors by analyzing the clinical features and growth hormone (GH)-insulin-like growth factor I (IGF-I) axis. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e091f2fdeafa46d9a7d29d4cccff122
https://pubmed.ncbi.nlm.nih.gov/14646400
https://pubmed.ncbi.nlm.nih.gov/14646400
Autor:
G. Gilli, U. Heinrich, D.A. Price, S.J. Rose, R.G. Rosenfeld, Christine P Burren, Maryam Razzaghy-Azar, A. Al-Ashwal, P Rochiccioli, M B Ranke, M.A. Preece, Katie A. Woods, P.G. Chatelain, N. Yordam, M. Tauber, Martin O. Savage, P.A. Crock
Publikováno v:
Hormone research. 55(3)
Objective: Classical growth hormone insensitivity syndrome (GHIS) comprises a dysmorphic phenotype, extreme short stature (height SDS < 3), normal GH and low IGF-I and IGFBP-3. Wide clinical variation is recognised with classical and atypical forms.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c6065daa1401a8dac3c8046cad9e0a5
https://pubmed.ncbi.nlm.nih.gov/11549873
https://pubmed.ncbi.nlm.nih.gov/11549873
Publikováno v:
American journal of medical genetics. 35(2)
We describe a 15 10/12-year-old boy (Tanner stage 4, peak growth velocity 7 cm/year) with a ring X chromosome who presented with extreme short stature (mean -5.3 SD) as the sole recognizable abnormality. His chromosome constitution was determined to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f900feaca319f3a2f3f2befb8e92c5
https://pubmed.ncbi.nlm.nih.gov/2106786
https://pubmed.ncbi.nlm.nih.gov/2106786