Results 41 to 50 of about 1,239 (147)
Case Reports in Endocrinology, 2021 Background. Growth hormone (GH) treatment increases the adult height of short children born small for gestational age (SGA). Catch-up growth is associated with a younger age, shorter height, and prepubertal status at the onset of GH treatment.
Daniel J. Olivieri +3 more
doaj +1 more source
Genotype phenotype correlation in achondroplasia and hypochondroplasia
, 1998 Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the
T. Kimura +5 more
core +1 more source
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders
Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan +8 more
wiley +1 more source
Basilar impression in a child with hypochondroplasia
, 1991 A 4-year-old boy with hypochondroplasia presented with delay in gross motor development. Magnetic resonance imaging demonstrated basilar impression with compression at the craniovertebral junction and mild degree of hydrocephalus.
Wong, VCN, Fung, CF
core +1 more source
Further delineation of achondroplasia–hypochondroplasia complex with long‐term survival [PDF]
, 2018 Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. Only four patients with confirmed molecular diagnoses have been reported to date, and the phenotype has not ...
Victoria del Castillo +11 more
core +1 more source
BMC Pediatrics, 2012 Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized.
Ros-Pérez Purificación +5 more
doaj +1 more source
Granulomatous cholangitis mimicking hilar cholangiocarcinoma: a case report
BMC Gastroenterology, 2020 Background Hilar biliary stricture caused by isolated fungal infections in immunocompetent patients are considered to be extremely rare and difficult to the diagnose from the outset.
Shigeru Fujisaki +4 more
doaj +1 more source
Clinical and genetic investigation of hypochondroplasia and dyschondrosteosis
, 2001 Linear body growth is a multifactorial trait influenced by many environmental and intrinsic factors. Among the intrinsic determinants of body height, genetic and endocrine factors are considered to be the most important.
Giedre Grigelioniene (68212)
core +1 more source
Hypochondroplasia: An underrecognized neurodevelopmental disorder
Developmental Medicine &Child Neurology, EarlyView.
Janet M. Legare
wiley +1 more source
American Journal of Human Biology, Volume 37, Issue 4, April 2025.ABSTRACT Objectives To establish age‐specific reference values for the arm span and arm span/height ratio of the Japanese population in children and adolescence and elucidate their characteristics compared with those of other populations. Study Design We analyzed data from a national survey on the body sizes of Japanese people conducted between 1992 ...
Yasuhiro Hirano +3 more
wiley +1 more source