Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.

American journal of medical genetics. Part A - 1 Mar 2012

Saito Tomoko, Nagasaki Keisuke, Nishimura Gen, Takagi Masaki, Hasegawa Tomonobu, Uchiyama Makoto

Abstract excerpt

Hypochondroplasia (HCH) is the mildest phenotype among fibroblast growth factor receptor 3 (FGFR3)-associated skeletal dysplasias. Affected individuals usually presents with mild short stature in preschool age. It was uncommon that a diagnosis of HCH is made in young affected children. Recently, however, prenatal ultrasound (US) has increased likelihood of detecting in utero mild short limbs. There have been a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Likelihood Functions

Share to Mutation

Share to Osteochondrodysplasias

Share to Radiography

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 22302603
DOI: 10.1002/ajmg.a.34424

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.PMID 22302603Read ↗

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.Semantic proximity Read ↗

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.Semantic proximity Read ↗

Criteria for radiologic diagnosis of hypochondroplasia in neonates.Semantic proximity Read ↗

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.Semantic proximity Read ↗

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.Semantic proximity Read ↗

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.Semantic proximity Read ↗

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.Semantic proximity Read ↗

[Hypochondroplasia: importance of radiological findings in the differential diagnosis of short statures of different origin].Semantic proximity Read ↗

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.Semantic proximity Read ↗

Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative CasesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.