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Article

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.

Ophthalmic genetics - 1 Jan 2000

Chandra Aman, Aragon-Martin Jose Antonio, Sharif Saba, Parulekar Manoj, Child Anne, Arno Gavin

Abstract excerpt

Craniosynostosis with ectopia lentis has been described five times since 1950 with unknown inheritance and variable phenotype. The patient was diagnosed with right coronal synostosis at age 10 weeks requiring surgery, and bilateral ectopia lentis with high myopia at 10 months. No other family member was affected. There is no known consanguinity within the family. Genetic screening ruled out FBN1, TGFBR2, and the...

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Source

Identifiers

PMID: 22871183
DOI: 10.3109/13816810.2012.710707

Genes

ADAMTSL4
FBN1
FGFR2
FGFR3
TGFBR2

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.PMID 22871183Read ↗

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.Semantic proximity Read ↗

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.Semantic proximity Read ↗

Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis.Semantic proximity Read ↗

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.Semantic proximity Read ↗

[Hereditary ectopia lentis].Semantic proximity Read ↗

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.Semantic proximity Read ↗

Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.Semantic proximity Read ↗

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.Semantic proximity Read ↗

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.Semantic proximity Read ↗

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population.Semantic proximity Read ↗

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.Semantic proximity Read ↗

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 FamiliesSemantic proximity Read ↗

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