Results 31 to 40 of about 1,159 (180)
Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway. [PDF]
PLoS ONE, 2012 Sotos syndrome (SoS) is characterized by tall stature, characteristic craniofacial features and mental retardation. It is caused by haploinsufficiency of the NSD1 gene.
Remco Visser +4 more
doaj +1 more source
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. [PDF]
PLoS ONE, 2009 Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR)3 plays a role in bone
Laurent Schibler +10 more
doaj +1 more source
Case Report Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? [PDF]
, 2020 FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial ...
Nabil Moghrabi +2 more
core
Homozygous N540K hypochondroplasia-First report: Radiological and clinical features [PDF]
, 2014 We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before.
García de Rosa, María Laura +4 more
core +1 more source
Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)
International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 318-324, March/April 2026.ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 353-359, February 2026.ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung +3 more
wiley +1 more source
Spectrum of FGFR3 gene mutations in hypochondroplasia [PDF]
, 2015 Hypochondroplasia (MIM 146000) is a skeletal dysplasia characterized by disproportional dwarfism with rhizomelic or mesomelic shortening of the upper and lower extremities, with variable severity.
Janoušková, Simona
core
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
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
Bilious Vomiting in the Newborn: A Three-Year Experience in a Tertiary Medical and Surgical Centre
Case Reports in Pediatrics, 2020 Background. Bilious vomiting in the newborn is common and requires urgent attention to exclude malrotation. The proportion of neonates with surgical abnormalities, however, is small, and there are other causes. Study Objectives.
Rebecca A Lee +3 more
doaj +1 more source