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De lange syndrome (i) (congenital muscular hypertrophy cerebral syndrome; brachmann-de lange syndrome)  354


De Lange Syndrome (I) (Congenital Muscular Hypertrophy Cerebral Syndrome; Brachmann-De Lange Syndrome)& 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp;   & 515g68f nbsp; 354

General: Etiology not known; autosomal recessive inheritance.

Ocular: Antimongoloid slant of palpebral fissures; mild exophthalmos; hypertrichosis of eyebrows; long eyelashes; telecanthus; ptosis; blepharophimosis; nystagmus on lateral gaze; constant coarse nystagmus; strabismus; alternating exotropia; high myopia; anisocoria; chronic conjunctivitis; blue sclera; pallor of optic disk.

Clinical: Mental retardation; growth retardation; extrapyramidal motor disturbances; multiple skeletal abnormalities with congenital muscular hypertrophy; long philtrum; thin lips; crescent-shaped mouth.

Beck B. Psycho-social assessment of 36 de Lange patients. J Ment Defic Res 1987; 31[Pt 3]:251-257.



Bull MJ, et al. Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann- de Lange syndrome. Am J Med Genet 1993; 47:1029-l034.

Cunnif C, et al. Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1018-l021.

deLange C. Sur un Type Nouveau de Degeneration (Typus Amstelodamensis). Arch Med Enf 36:713, 1933.

Hawley PP, Jackson LG, Kurnit DM. Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am J Med Genet 1985; 20:453-459.

Ireland M, et al. Brachmann-deLange syndrome. Delineation of the Clinical phenotype. Am J Med Genet 1993; 47: 959-964.

Jackson L, et al. deLange syndrome: a Clinical review of 310 individuals. Am J Med Genet 1993; 47:940-946.

Jelsema RD, et al. Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair. Brachmann-de Lange syndrome. Am J Med Genet 1993; 47:1022-l023.

Milot J, Demay F. Ocular anomalies in de Lange syndrome. Am J Ophthalmol 1972; 74:394.

Rosenbach Y, Zahavi I, Dinari G. Gastroesophageal dysfunction in Brachmann-de Lange syndrome. Am J Med Genet 1992; 42:379-380.

Singh NN, Pulman RM. Self-injury in the de Lange syndrome. J Ment Defic Res 1979; 23:79-84.




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