Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?
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.
Guion-Almeida
Maria Leine
ML
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
Machado-Paula
Ligiane Alves
LA
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome; D014057:Tomography, X-Ray Computed