Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition.
de Carvalho
Daniel Rocha
DR
Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil.
Rossi
Natalia Freitas
NF
Schellini
Silvana
S
Moretti-Ferreira
Danilo
D
Richieri-Costa
Antônio
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D011859:Radiography; D013577:Syndrome; D050277:Toe Phalanges / Q000002:abnormalities / Q000000981:diagnostic imaging