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Antimongolism syndrome


Antimongolism Syndrome (Chromosome 21 Partial Deletion Syndrome; Monosomy 21 Partial Syndrome; G-Deletion Syndrome) 333d32d 333d32d 333d32d 333d32d 333d32d 333d32d

General: Partial monosomy of chromosome 21 with absence of the short arm and part of the long arm of this chromosome.

Ocular: Antimongoloid slant of lid fissures; blepharochalasis; sclerocornea.

Clinical: Hypertony; large ear lobes; prominent nasal bridge; mental retardation; pyloric stenosis; dystrophic nails; retarded growth; heart disease; hemivertebrae; micrognathia.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Doane JF, et al. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea 1994; 13:454-458.

Lejeune J, et al. Monosomie Partielle Pour un Petit Acrocentrique. C R Acad Sci (Paris) 1964; 259:4187.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Penrose LS. Antimongolism [Letter]. Lancet





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