Achondroplasia
Achondroplasia 11
General: Dwarfism; etiology unknown; occurs in both sexes; inheritance is autosomal dominant with almost complete penetrance; characterized by rhizomelic dwarfism (reduction most marked in the proximal limbs); mid-face hypoplasia; exaggerated lumbar lordosis; limitation of hip and elbow expansion; location of achondroplastic gene reported to be in the short arm of chromosome 1.
Ocular: Strabismus; optic atrophy; hypermetropia.
Clinical: Osseous impingement upon cranial nerves; rhizomelic short stature; facial features include frontal bossing, depressed nasal bridge, relative mandibular prognathism; connective tissue dysplasia; hypotonic in infancy; paraplegia may develop in second or third decade.
Fraunfelder FT, Roy FH. Current ocular therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Griffin JR, et al. Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. Am J Optom Physiol Opt 1980; 57:118-123.
Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Verloes A, et al. Neuroblastoma in a dwarfed newborn: possible clue to the chromosomal localization of the gene for achondroplasia? Am Genet 1991; 34:25-26.
General: Dwarfism; etiology unknown; occurs in both sexes; inheritance is autosomal dominant with almost complete penetrance; characterized by rhizomelic dwarfism (reduction most marked in the proximal limbs); mid-face hypoplasia; exaggerated lumbar lordosis; limitation of hip and elbow expansion; location of achondroplastic gene reported to be in the short arm of chromosome 1.
Ocular: Strabismus; optic atrophy; hypermetropia.
Clinical: Osseous impingement upon cranial nerves; rhizomelic short stature; facial features include frontal bossing, depressed nasal bridge, relative mandibular prognathism; connective tissue dysplasia; hypotonic in infancy; paraplegia may develop in second or third decade.
Fraunfelder FT, Roy FH. Current ocular therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Griffin JR, et al. Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. Am J Optom Physiol Opt 1980; 57:118-123.
Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Verloes A, et al. Neuroblastoma in a dwarfed newborn: possible clue to the chromosomal localization of the gene for achondroplasia? Am Genet 1991; 34:25-26.
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