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Mcfarland syndrome 7


McFarland Syndrome 7

General: Autosomal recessive; duplication of chromosome 16q22 has been proposed; prominent amniotic fluid leakage.

Ocular: Hypertelorism; dystopic canthi.

Clinical: Flat-appearing face; prominent forehead and frontal bossing; dislocation of joints (elbows, knees, hips most commonly); malformation of feet; short metacarpals; heart defects (usually ventricular septum); harelip; cleft palate; micrognathia.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Houlston RS, et al. Duplication of 16q22 qter confirmed by fluorescence in situ hybridization and molecular analysis. J Med Genet 1994; 31:884-887.

McFarland BL. Congenital dislocation of knee. J Bone Joint Surg 1929; 11:281.

Provenzano RW. Congenital dislocation of the knee: report of a case. N Engl J Med 1947; 236:360.

Vedantam R, Douglas DL. Congenital dislocation of the knee as a consequence of persistent amniotic fluid leakage. Br J Clin Pract 1994; 48:342-343.




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