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2008•Clinical DysmorphologyRequires access

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder

Maria Leine Guion‐Almeida, Antônio Richieri‐Costa, Roseli Maria Zechi‐Ceide

Open publisher page 3 citations

Abstract

We report on three unrelated Brazilian patients with a holoprosencephaly phenotype, with variable central nervous system involvement, ano/microphthalmia, and first branchial arch anomalies. The features of these patients show a striking similarity to those of the patients reported by Guion-Almeida et al. (1999) and Ribeiro et al. (2005), thus confirming the existence of this rare condition. All cases are isolated and the etiology remains unknown.

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What this paper is about

We report on three unrelated Brazilian patients with a holoprosencephaly phenotype, with variable central nervous system involvement, ano/microphthalmia, and first branchial arch anomalies. The features of these patients show a striking similarity to those of the patients reported by Guion-Almeida et al. (1999) and Ribeiro et al. (2005), thus confirming the existence of this rare condition. All cases are isolated and the etiology remains unknown.

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OpenAlex reports 3 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

We report on three unrelated Brazilian patients with a holoprosencephaly phenotype, with variable central nervous system involvement, ano/microphthalmia, and first branchial arch anomalies. The features of these patients show a striking similarity to those of the patients reported by Guion-Almeida et al. (1999) and Ribeiro et al. (2005), thus confirming the existence of this rare condition. All cases are isolated and the etiology remains unknown.

Key concepts: Holoprosencephaly, Microphthalmia, Medicine, Etiology, Branchial arch, Anatomy, Dermatology, Pathology

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