Radial aplasia with oligodactyly
نویسندگان
چکیده
Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. 6. Amiel J, Attiee-Bitach T, Marianowski R. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001;99:124-7. 7. Al Frayh AR, Haque KN. Anophthalmia, microcephaly, hypotonia, hypogonadism, failure to thrive and developmental delay. Dysmorphol Clin Genet 1987;1:64-6. 8. Lenz W. Recessivgeschlechtsgebundene Mikrophthalmie mit multiplen Missbildungen. Z Kinderheilkd 1955;77:384. 9. Hermann J, Opitz JM. The Lenz microphthalmia syndrome. BD: OAS 1969;5:138-43. 10. Krishnamurthy MS, Urban RC Jr, Kousseff BG, Margo CE. Lenz syndrome in two sisters: Clinicopathologic correlations of the ocular anomalies. J Pediatr Ophthalmol Strabismus 1998;35:96-9. 11. Traboulsi EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae W, Maumenee I. The Lenz microphthalmia syndrome. Am J Ophthalmol 1988;105:40-5.
منابع مشابه
Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.
We describe a two generation family with variable ulnar and radial ray reduction and midline craniofacial abnormalities. The features suggest a diagnosis of Weyers' ulnar ray/oligodactyly syndrome originally described in two isolated cases. Syndromes of ulnar ray reduction are briefly reviewed and the relationship between limb bud and midline development discussed.
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A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.
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