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.
Guion-Almeida
Maria Leine
ML
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.
Richieri-Costa
Antonio
A
Zechi-Ceide
Roseli Maria
RM
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