Approaches to measuring the frequency of achondroplasia and hypochondroplasia causing FGFR-3 mutations in human sperm [PDF]
, 2002 Achondroplasia and hypochondroplasia are two forms of skeletal dysplasias caused predominantly by single base mutations in the fibroblast growth factor receptor 3 gene (FGFR-3).
Daters, Andrew Timothy
core +1 more source
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
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 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
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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
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
Молекулярно-генетична діагностика мутацій гена FGFR3 при ахондроплазії та гіпохондроплазії
Фактори експериментальної еволюції організмів, 2015 Aims. The differential diagnosis of achondroplasia and hypochondroplasia in Ukraine is based on the typical clinical and radiologic features that limits accurate diagnosis and leads to many false-positive diagnoses when checked against a complete ...
І. М. Дмитрук +5 more
doaj
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
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