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Profound limb deficiency, thoracic anomalies, unusual facies and normal intelligence -; the al-awadi syndrome -; report of a brazilian patient
A. Richieri-Costa
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, 17043 Bauru, SP, Brasil
ABSTRACT
We report on a Brazilian girl presenting severe limb deficiency, abnormally modeled upper ribs, unusual facies and normal intelligence. The clinical aspects involving this patient strongly suggest those reported by Al-Awadi et al. (J. Med. Genet. 22: 36-38, 1985).
Keywords: limb; thoracic; anomalies, facies; intelligence; syndrome.
REFERENCES
Al-Awadi, S.A., Teebi, A.S., Farag,. T.I., Naguib, K.M. and Khalifa, M.Y. (1985). Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genet. 22: 36-38.
Birch-Jensen, A. (1949). Congenital Deformities of the Upper Extremities. Andelsbogtrykkeriet i Odense and Det danske Forlag, 285 pp.
Kühne, D., Lenz, W., Petersen, D. and Schonenberg, H. (1967). Defekt von Femur und Fibula mit Amelie, Peromelia oder ulnarem Strahldefekten der Arme. Ein Syndrom. Humangenetik 3:244-263.
Lenz, W. and Feldmann, U. (1977). Unilateral and asymmetric limb defects in man: Delineation of the Femur-Fibula-Ulna Complex. Birth Defects XIII: 269-285.
Lewin, S.Ó. and Opitz, J.M. (1986). Fibular a/hypoplasia: Review and documentation of the fibular developmental field. Am. J. Med. Genet. (Suppl.) 2: 215-238.
Temtamy, S. and McKusick, V.A. (1978). The genetics of hand malformations. Birth Defects XIV: 1-619.