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

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.

American journal of medical genetics - 26 Nov 1999

Huggins M J, Mernagh J R, Steele L, Smith J R, Nowaczyk M J

Abstract excerpt

Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). Prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a mother with achondroplasia (ACH) and a father with HCH. Serial sonographic measurements were recorded from 16 weeks...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Femur
Share to Fetal Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pregnancy Complications

Share to Pregnancy Trimester, Second

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 10564875

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

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.PMID 10564875Read ↗

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

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

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

Achondroplasia-hypochondroplasia complex in a newborn infant.Semantic proximity Read ↗

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.Semantic proximity Read ↗

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

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.Semantic proximity Read ↗

Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.Semantic proximity Read ↗

Prenatal Diagnosis of Fetal Skeletal Dysplasia Using 3-Dimensional Computed Tomography: A Prospective StudySemantic proximity Read ↗

Prenatal Diagnosis of Fetal Skeletal Dysplasia Using 3-Dimensional Computed Tomography: A Case SeriesSemantic proximity Read ↗

Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years.Semantic proximity Read ↗

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