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Article

Male with type II autosomal recessive cutis laxa.

Clinical genetics - 1 Jan 1994

Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y

Abstract excerpt

A 5-year-old boy, who had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen...

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Identifiers

PMID: 8149651
DOI: 10.1111/j.1399-0004.1994.tb03988.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Male with type II autosomal recessive cutis laxa.PMID 8149651Read ↗

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

Cutis laxa: autosomal dominant inheritance in five generationsSemantic proximity Read ↗

[Congenital generalized cutis laxa: 5 cases].Semantic proximity Read ↗

Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.Semantic proximity Read ↗

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.Semantic proximity Read ↗

Congenital cutis laxa and lysyl oxidase deficiencySemantic proximity Read ↗

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

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

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