CNS Midline Anomalies in the Opitz G/BBB Syndrome: Report on 12 Brazilian Patients

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1992 Aug 1

PMID 1415340

Citations 4

Authors

A Richieri-Costa

Affiliations

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Abstract

We report on 12 Brazilian boys with the Optiz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.

Citing Articles

Surgical management of penoscrotal hypospadias in a child with Opitz G/BBB syndrome: a case report.

Ahmed F, Altam A, Alyhari Q, Badheeb M, Aljbri W, Al-Wageeh S Pan Afr Med J. 2023; 44:103.

PMID: 37250678 PMC: 10219829. DOI: 10.11604/pamj.2023.44.103.38737.

Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

Li B, Zhou T, Zou Y Mol Genet Genomic Med. 2016; 4(1):95-105.

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr M, Wilson N, Swarr D, McCormick E J Med Genet. 2014; 52(2):104-10.

PMID: 25412741 PMC: 4393015. DOI: 10.1136/jmedgenet-2014-102677.

Auditory findings and electrophysiologics in individuals with G/BBB syndrome.

Cassab T, Zanchetta S, Giacheti C, Zorzetto N, Richieri-Costa A Braz J Otorhinolaryngol. 2011; 77(6):768-74.

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