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

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.

Molecular biology reports - 2 Dec 2024

Elmakhzen Badreddine, Bouguenouch Laila, Oussama Kettani, Ali El Asri Yasser, Askander Omar

Abstract excerpt

BACKGROUND: Dyggve-Melchior-Clausen (DMC) disease is a rare autosomal recessive disorder primarily characterized by spondylo-epimetaphyseal dysplasia, intellectual disability, and distinctive facial features. Patients typically present with severe developmental delays and cognitive impairments, defining features of the syndrome. METHODS AND RESULTS: This case report examines a 13-year-old Moroccan child diagnosed...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Intellectual Disability

Share to Morocco

Share to Osteochondrodysplasias

Source

Identifiers

PMID: 39617845
DOI: 10.1007/s11033-024-10129-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.PMID 39617845Read ↗

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.Semantic proximity Read ↗

Recent advances in Dyggve-Melchior-Clausen syndrome.Semantic proximity Read ↗

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.Semantic proximity Read ↗

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.Semantic proximity Read ↗

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.Semantic proximity Read ↗

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.Semantic proximity Read ↗

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene].Semantic proximity Read ↗

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.Semantic proximity Read ↗

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.Semantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.Semantic proximity Read ↗

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].Semantic proximity Read ↗

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