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.
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
Maria Leine
ML
Guion-Almeida
Ligiane Alves
LA
Machado-Paula
Antonio
A
Richieri-Costa
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