Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.
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.
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.
Maria Leine
ML
Guion-Almeida
Antonio
A
Richieri-Costa
Roseli Maria
RM
Zechi-Ceide
D000853:Anophthalmos / Q000473:pathology*; D001934:Branchial Region / Q000002:abnormalities*; D005260:Female; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000473:pathology*; D014057:Tomography, X-Ray Computed