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

Novel spinal dysplasia in two generations.

American journal of medical genetics - 13 Mar 1995

Anhalt H, Parker B, Paranjpe D V, Neely E K, Silverman F N, Rosenfeld R G

Abstract excerpt

We report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic evaluation of the propositus (son), obtained due to maternal pre-eclampsia, suggested an abnormal spine. At birth, no congenital anomalies were noted and transition to extra-uterine life was smooth. Radiographs performed five days after birth showed spina bifida, hemivertebrae in the...

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 Genes, Dominant
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7747794
DOI: 10.1002/ajmg.1320560120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel spinal dysplasia in two generations.PMID 7747794Read ↗

A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.Semantic proximity Read ↗

Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in HumansSemantic proximity Read ↗

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.Semantic proximity Read ↗

Lethal and life-limiting skeletal dysplasias: Selected prenatal issuesSemantic proximity Read ↗

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

Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.Semantic proximity Read ↗

Prenatal sonographic diagnosis of skeletal dysplasiasSemantic proximity Read ↗

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.Semantic proximity Read ↗

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literatureSemantic proximity Read ↗

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral MalformationsSemantic proximity Read ↗

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

X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.Semantic proximity Read ↗

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