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Craniofacial disproportions in Waarderburg syndrome type I

Elias Oliveira da-Silva^I,II; Josué Edilson Mazza Batista^III

^IDepartamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil
^IIServiço de Genética Médica, Instituto Materno-Infantil de Pernambuco (IMIP), Rua dos Coelhos 300, Boa Vista, 50070-550 Recife, PE, Brasil. Send correspondence to E.O.S.
^IIIDepartamento de Estatística, Universidade Federal de Pernambuco, Recife, PE, Brasil

ABSTRACT

Based on a set of 15 surface measurements, taken directly from the head and face of 51 patients with Waardenburg syndrome type I (WSI), values for 15 proportion indices were determined. Pairs between patients and controls of the same sex and age were formed for comparison. The main craniofacial disproportions observed in the WSI group were: wide inner intercanthal distance and narrow nose in relation to the outer intercanthal distance, and elongated ears and short philtrum compared with face height.

Keywords: craniofacial disproportions; Waarderburg syndrome.

REFERENCES

Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. and Milunsky, A. (1992). An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355: 637-638.

da-Silva, E.O. (1991). Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. Am. J. Med. Genet. 40: 65-74.

da-Silva, E.O., Batista, J.E.M., Medeiros, M.A.B. and Fonteles, S.M.S. (1993). Craniofacial anthropometric studies in Waardenburg syndrome type I. Clin. Genet. 44: 20-25.

Farkas, L.G., Kolar, J.C. and Munro, I.R. (1985). Craniofacial disproportions in Apert's syndrome: an anthropometric study. Cleft Palate J. 22: 253-265.

SAS Guide for Personal Computers (1987). Edition. SAS Institute Inc. Cary, North Carolina.