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

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

American journal of medical genetics. Part A - 1 May 2021

Gangadaran Prabakaran, Chaudhry Chakshu, Panigrahi Inusha, Kumari Anu, Kaur Anupriya

Abstract excerpt

Frontometaphyseal dysplasia (FMD) is a rare genetic disorder with morphological abnormalities of the skeletal and extra skeletal tissues. It belongs to the group of otopalatodigital spectrum disorders. Here we report a 12-year-old boy from India with features of frontometaphyseal dysplasia who had severe scoliosis with neurological complications due to spinal cord compromise. Clinical examination of his mother...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Mothers

Share to Osteochondrodysplasias

Share to Scoliosis

Share to Spinal Cord

Source

Identifiers

PMID: 33615695
DOI: 10.1002/ajmg.a.62134

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

X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.PMID 33615695Read ↗

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.Semantic proximity Read ↗

A Review of the Principles of Radiological Assessment of Skeletal DysplasiasSemantic proximity Read ↗

Guidelines for genetic skeletal dysplasias for pediatriciansSemantic proximity Read ↗

A new concept of skeletal dysplasias.Semantic proximity Read ↗

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.Semantic proximity Read ↗

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.Semantic proximity Read ↗

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.Semantic proximity Read ↗

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.Semantic proximity Read ↗

Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.Semantic proximity Read ↗

Fetal phenotypes in otopalatodigital spectrum disorders.Semantic proximity Read ↗

Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and DiagnosisSemantic proximity Read ↗

[Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders].Semantic proximity Read ↗

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