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

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.

American journal of medical genetics. Part A - 1 Jul 2020

Lawson Cathleen, Blakemore Karin J, Ryan Rebecca, Hooper Jody E, Tsimis Michael, Jelin Angie

Abstract excerpt

3MC syndromes are rare heterogeneous autosomal recessive conditions previously designated as Mingarelli, Malpuech, Michels, and Carnevale syndromes, characterized by dysmorphic facial features, facial clefts, growth restriction, and intellectual disability. 3MC is secondary to mutations in the MASP1, MASP3, COLEC11, and COLEC10 genes. The number of patients with 3MC syndrome with known mutations in the COLEC11 or...

Read the complete abstract on PubMed

Topics

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

Share to Blepharoptosis
Share to Cleft Lip

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniosynostoses

Share to Cryptorchidism

Share to Hip Dislocation, Congenital

Share to Mannose-Binding Protein-Associated Serine Proteases

Share to Strabismus

Source

Open in PubMed Open full text

Identifiers

PMID: 32441374
DOI: 10.1002/ajmg.a.61624
PMCID: PMC7780158

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

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.PMID 32441374Read ↗

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.Semantic proximity Read ↗

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.Semantic 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 ↗

'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'.Semantic proximity Read ↗

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.Semantic proximity Read ↗

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.Semantic proximity Read ↗

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.Semantic proximity Read ↗

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Semantic proximity Read ↗

Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.Semantic proximity Read ↗

Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.Semantic proximity Read ↗

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.Semantic proximity Read ↗

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.Semantic proximity Read ↗

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