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

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

American journal of medical genetics. Part A - 1 Mar 2005

Giunta Cecilia, Randolph Ann, Al-Gazali Lihadh I, Brunner Han G, Kraenzlin Marius E, Steinmann Beat

Abstract excerpt

We report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Since its first description by Nevo et al. [1974], only a few cases have been reported. Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type III
Share to Collagen Type V

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Growth Disorders

Share to Kyphosis

Share to Muscle Hypotonia

Share to Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Source

Identifiers

PMID: 15666309
DOI: 10.1002/ajmg.a.30529

Genes

PLOD1

Variants

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 · 11 closest

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).PMID 15666309Read ↗

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.Semantic proximity Read ↗

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.Semantic proximity Read ↗

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.Semantic proximity Read ↗

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.Semantic proximity Read ↗

Becker nevus syndromeSemantic proximity Read ↗

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).Semantic proximity Read ↗

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.Semantic proximity Read ↗

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.Semantic proximity Read ↗

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?Semantic proximity Read ↗

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.Semantic proximity Read ↗

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndromeSemantic proximity Read ↗

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