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Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
. 2008 Aug 15; 146A(16):2134-7.

Abstract

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.

Authors+Show Affiliations

Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18627062

Citation

de Carvalho, Daniel Rocha, et al. "Schilbach-Rott/blepharofacioskeletal Syndrome in a Brazilian Patient." American Journal of Medical Genetics. Part A, vol. 146A, no. 16, 2008, pp. 2134-7.
de Carvalho DR, Rossi NF, Schellini S, et al. Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. Am J Med Genet A. 2008;146A(16):2134-7.
de Carvalho, D. R., Rossi, N. F., Schellini, S., Moretti-Ferreira, D., & Richieri-Costa, A. (2008). Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. American Journal of Medical Genetics. Part A, 146A(16), 2134-7. https://doi.org/10.1002/ajmg.a.32428
de Carvalho DR, et al. Schilbach-Rott/blepharofacioskeletal Syndrome in a Brazilian Patient. Am J Med Genet A. 2008 Aug 15;146A(16):2134-7. PubMed PMID: 18627062.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient. AU - de Carvalho,Daniel Rocha, AU - Rossi,Natalia Freitas, AU - Schellini,Silvana, AU - Moretti-Ferreira,Danilo, AU - Richieri-Costa,Antônio, PY - 2008/7/16/pubmed PY - 2008/9/4/medline PY - 2008/7/16/entrez SP - 2134 EP - 7 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 146A IS - 16 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18627062/Schilbach_Rott/blepharofacioskeletal_syndrome_in_a_Brazilian_patient_ L2 - https://doi.org/10.1002/ajmg.a.32428 DB - PRIME DP - Unbound Medicine ER -