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

Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.

Neurology India - 1 Jan 2000

Vats Pallavi, Polipalli Sunil K, Yuvaraj P, Kapoor Seema

Abstract excerpt

Cutis laxa is a set of genetically heterogeneous conditions with phenotypes ranging from progeria-like appearance, corneal clouding, clenched fingers with marked retardation of growth both pre and postnatal growth to very mild phenotypes with skin laxity becoming evident in 2nd or 3rd decade. A child who presents with predominant motor delay is written off with a clinical diagnosis of rickets in the absence of...

Read the complete abstract on PubMed

Topics

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

Share to Apraxias
Share to Child, Preschool
Share to Cutis Laxa

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Phenotype

Source

Identifiers

PMID: 32859844
DOI: 10.4103/0028-3886.293457

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.PMID 32859844Read ↗

Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.Semantic proximity Read ↗

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.Semantic proximity Read ↗

Cutis Laxa.Semantic proximity Read ↗

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.Semantic proximity Read ↗

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.Semantic proximity Read ↗

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.Semantic proximity Read ↗

Cutis laxa: a review.Semantic proximity Read ↗

Unique presentation of cutis laxa with Leigh‐like syndrome due to ECHS1 deficiencySemantic proximity Read ↗

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.Semantic proximity Read ↗

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.Semantic proximity Read ↗

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).Semantic proximity Read ↗

A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.Semantic proximity Read ↗

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