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.
1. Trilogia Fallot este constituita din stenoza pulmonara, defect septal inleratrial si hipertrofia ventriculului drept. Din cauza presiunilor mari [...] |
Este o cardiopatie congenitala frecvent intilnita, a carei incidenta este estimata intre 1015% din totalul anomaliilor congenitale cardio- [...] |
Imperforatia canalului lacrimal este o anomalie congenitala a carei manifestare este dacriocistita cronica la copil. Alte anomalii posibile sunt: [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
