Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?
Maria Leine Guion‐Almeida, Ligiane Alves Machado‐Paula, Antônio Richieri‐Costa
Abstract
Maria Leine Guion‐Almeida, Ligiane Alves Machado‐Paula, Antônio Richieri‐Costa
Abstract
We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.
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We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.
Key concepts: Aplasia, Medicine, Proboscis, Anatomy, Dermatology