Report of Two Sibs with Knobloch Syndrome (encephalocoele and Viteroretinal Degeneration) and Other Anomalies

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1998 Jul 24

PMID 9677068

Citations 10

Authors

C Wilson

S Aftimos

A Pereira

R McKay

Affiliations

Soon will be listed here.

Abstract

We report on two sibs with high myopia, vitreoretinal degeneration (VRD), and occipital encephalocoele or scalp lesion. We review the literature on Knobloch syndrome, discuss possible causes, and suggest a possible involvement of mesoderm in the morphogenesis. One case presents with very early onset of severe eye disease, whereas the other is notable for the very mild scalp defect. In addition, both appear to have an unusual pulmonary lymphatic condition.

Citing Articles

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Domenach L, Rooryck C, Legendre M, Bouchghoul H, Beneteau C, Margot H BMC Med Genomics. 2025; 18(1):35.

PMID: 39994693 PMC: 11853806. DOI: 10.1186/s12920-025-02096-6.

The role of basement membranes in cardiac biology and disease.

Boland E, Quondamatteo F, Van Agtmael T Biosci Rep. 2021; 41(8).

PMID: 34382650 PMC: 8390786. DOI: 10.1042/BSR20204185.

Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.

White R, Wang Y, Tang P, Montezuma S BMC Ophthalmol. 2017; 17(1):214.

PMID: 29178892 PMC: 5702215. DOI: 10.1186/s12886-017-0615-z.

Endostatin's emerging roles in angiogenesis, lymphangiogenesis, disease, and clinical applications.

Walia A, Yang J, Huang Y, Rosenblatt M, Chang J, Azar D Biochim Biophys Acta. 2015; 1850(12):2422-38.

PMID: 26367079 PMC: 4624607. DOI: 10.1016/j.bbagen.2015.09.007.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Caglayan A, Baranoski J, Aktar F, Han W, Tuysuz B, Guzel A Pediatr Neurol. 2014; 51(6):806-813.e8.

PMID: 25456301 PMC: 5056964. DOI: 10.1016/j.pediatrneurol.2014.08.025.