Microcephaly with chorioretinal degeneration

Ophthalmic Genetics

Volumn 19, Issue 1, 1998, Pages 39-48

  Atchaneeyasakul, La Ongsri ^a   Linck, Leesa ^b   Weleber, Richard G ^a,b,c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c CASEY EYE INSTITUTE   (United States)

Author keywords

Autosomal dominant inheritance; Autosomal recessive inheritance; Chorioretinal degeneration; Microcephaly; Retinitis pigmentosa

Indexed keywords

VISUAL PIGMENT;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN CORTEX ATROPHY; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHORIORETINOPATHY; CHROMOSOME 14; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; ELECTRORETINOGRAM; FEMALE; HUMAN; INFANT; MALE; MEDICAL RECORD; MENTAL DEFICIENCY; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PACHYGYRIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; RING CHROMOSOME;

EID: 0031776621     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.19.1.39.2178     Document Type: Article

References (53)

1. Warkany J, Lemire RJ, Cohen MM Jr. Microcephaly. In: Warkany J, Lemire RJ, Cohen MM Jr, editors. Mental Retardation and Congenital Malformations of the Central Nervous System. Chicago: Year Book Medical Publishers, Inc., 1981; 13-47.
2. Haslam RH, Smith DW. Autosomal dominant microcephaly. J Pediatr 1979; 95:701-705.
3. Ramirez ML, Rivas F, Cantu JM. Silent microcephaly: a distinct autosomal dominant trait. Clin Genet 1983; 23:281-286.
4. Merlob P, Steier D, Reisner SH. Autosomal dominant isolated (uncomplicated) microcephaly. J Med Genet 1988; 25:750-753.
5. Fried K, Micle S, Goldberg MD. Genetic microcephaly in a pair of monozygous twins. Teratology 1984; 29:177-180.
6. Teebi AS, Al-Awadi SA, White AG. Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet 1987; 26:355-359.
7. Renier WO, Gabreels FJ, Jasper HH, Hustinx TW, Geelen JA, Van Haelst UJ. An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness. J Ment Defic Res 1982; 26:27-40.
8. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA 3d. Two patients with ring chromosome 15 syndrome. Am J Med Genet 1988; 29:149-154.
9. Takeda K, Okamura T, Hasegawa T. Sibs with tetrasomy 18p born to a mother with trisomy 18p. J Med Genet 1989; 26:195-197.
10. Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, et al. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet 1990; 35:269-273.
11. Caramia GM, Baroncini A, Osimani P, Forabosco A. Ring chromosome 7: report of the fifth case. Eur J Pediatr 1990; 149:475-476.
12. Sundareshan TS, Naguib KK, Al-Awadi SA, Redha MA, Hamoud MS. Apparently nonmosaic trisomy 22: clinical report and review. Am J Med Genet 1990; 36:7-10.
13. Palmer CG, Bader P, Slovak ML, Comings DE, Pettenati MJ. Partial deletion of chromosome 6p: delineation of the syndrome. Am J Med Genet 1991; 39:155-160.
14. Warburton D, Anyane-Yeboa K, Taterka P, Yu CY, Olsen D. Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant? Ann Genet 1991; 34:287-292.
15. Falik-Borenstein TC, Pribyl TM, Pulst SM, Van Dyke DL, Weiss L, Chu ML, et al. Stable ring chromosome 21: molecular and clinical definition of the lesion. Am J Med Genet 1992; 42:22-28.
16. Van Buggenhout G, Decock P, Fryns JP. A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11→q223? Genet Couns 1996; 7:53-59.
17. Mole RH. Consequences of prenatal radiation exposure for postnatal development (a review). Int J Radiat Biol 1982; 42:1-12.
18. Jones KL, Smith DW, Ulleland CN, Streissguth P. Pattern of malformation in offspring of chronic alcoholic mothers. Lancet 1973; 1:1267-1271.
19. Zackai EH, Mellman WJ, Neiderer B, Hanson W. The fetal trimethadione syndrome. J Pediatr 1975; 87:280-284.
20. Brander T. Microcephalus und Tetraplegie bei einem Kinde nach Kohlenmonoxydvergiftung der Mutter Während der Schwangerschaft. Acta Paediatr 1940; 28:123-132.
21. Swan C, Tostevin AL, Mayo H, Barham Black GH. Further observations on congenital defects in infants following infectious diseases during pregnancy, with special reference to rubella. Med J Aust 1944; 1:409-413.
22. Weller TH, Hanshaw JB. Virologic and clinical observations on cytomegalic inclusion disease. N Engl J Med 1962; 266:1233-1244.
23. South MA, Tompkins WA, Morris CR, Rawls WE. Congenital malformation of the central nervous system associated with genital type (type2) herpesvirus. J Pediatr 1969; 75:13-18.
24. Levin PM, Moore H. Fetal toxoplasmic encephalitis - a type of congenital cerebral disease. J Pediatr 1942; 21:673-679.
25. Scotti A, Logan L, Caldwell JG. Fluorescent antibody test for neonatal congenital syphilis: a progress report. J Pediatr 1969; 75:1129-1134.
26. McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol 1966; 75:597-600.
27. Fisch RO, Ketterling WC, Schacht LE, Letson RD. Ocular abnormalities of a child associated with familial microcephaly. Am J Ophthalmol 1973; 76:260-264.
28. Cordier J, Tridon P, Raspiller A, Stehlin B. Microcephalies genetiques et dysplasies chorioretiniennes dans une meme fratrie. Bull Soc Ophtalmol Fr 1975; 75:473-477.
29. Warburg M. Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counselling. Hum Hered 1976; 26:137-148.
30. Jarmas AL, Weaver DD, Ellis FD, Davis A. Microcephaly, microphthalmia, falciform retinal folds, and blindness: a new syndrome. Am J Dis Child 1981; 135:930-933.
31. Kretzer FL, Hittner HM, Mehta RS. Ocular manifestations of the Smith-Lemli-Opitz syndrome. Arch Ophthalmol 1981; 99:2000-2006.
32. Tenconi R, Clementi M, Moschini GB, Casara G, Baccichetti C. Chorio-retinal dysplasia, microcephaly and mental retardation: an autosomal dominant syndrome. Clin Genet 1981; 20:347-351.
33. Young ID, Fielder AR, Simpson K. Microcephaly, microphthalmos, and retinal folds: report of a family. J Med Genet 1987; 24:172-174.
34. Sheriff SMM, Hegab S. A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation. Ophthalmic Surg 1988; 19:353-355.
35. Feingold M, Bartoshesky L. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet 1992; 43:1030-1031.
36. Gass JD, Taney BS. Flecked retina associated with cafe au lait spots, microcephaly, epilepsy, short stature, and ring 17 chromosome. Arch Ophthalmol 1994; 112:738-739.
37. Sadler LS, Robinson LK. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Am J Med Genet 1993; 47:65-68.
38. Warburg M, Heuer HE. Chorioretinal dysplasia-microcephaly-mental retardation syndrome. Am J Med Genet 1994; 52:117.
39. McKusick VA. Mendelian Inheritance in Man: a Catalog of Human Genes and Genetic Disorders, 11th ed. Baltimore: The Johns Hopkins University Press, 1994; Vol. 1, 240;
40. McKusick VA. Mendelian Inheritance in Man: a Catalog of Human Genes and Genetic Disorders, 11th ed. Vol. 2, 2006-2007.
41. Manning FJ, Bruce AM, Berson EL. Electroretinograms in microcephaly with chorioretinal degeneration. Am J Ophthalmol 1990; 109:457-463.
42. Weleber RG, Tongue AT, Kennaway NG, Budden SS, Buist NRM. Ophthalmic manifestations of infantile phytanic acid storage disease. Arch Ophthalmol 1984; 102:1317-1321.
43. Weleber RG, Tongue AT. Congenital stationary night blindness presenting as Leber's congenital amaurosis. Arch Ophthalmol 1987; 105:360-365.
44. Weleber RG, Eisner A. Retinal function and physiological studies. In: Newsome DA, editor. Retinal Dystrophies and Degenerations. New York, NY: Raven Press, 1988; 21-69.
45. Marmor MF, Arden GB, Nilsson SEG, Zrenner E, for the Standardization Committee of the International Society for Clinical Electrophysiology of Vision (ISCEV). Standard for clinical electroretinography. Arch Ophthalmol 1989; 107:816-819.
46. Hamill PV, Drizd TA, Johnson CL, Reed RB, Roche AF, Moore WM. Physical growth: National Center for Health Statistics Percentiles. Am J Clin Nutr 1979; 32:607-629.
47. Zelante L, Torricelli F, Calvano S, Mingarelli R, Dallapiccola B. Ring chromosome 14 syndrome: report of two cases, including extended evaluation of a previously reported patient and review. Ann Genet 1991; 34:93-97.
48. Raoul O, Razavi F, Lescs MC, Bouhanna A. Chromosome 14 en anneau. I. Une observation de r(14) homogene. Ann Genet 1984; 27:88-90.
49. Rethore MO, Caille B, Huet de Barochez Y, de Blois MC, Ravel A, Lejeune J. Chromosome 14 en anneau. II. Une observation de r(14) en mosaique. Le phenotype r(14). Ann Genet 1984; 27:91-95.
50. Guillot M, Dufier JL, Perignon F, Lenoir G, de Grouchy J. Anomalies oculaires du phenotype 46,XY,r(14). Arch Fr Pediatr 1983; 40:433.
51. Iselius L, Ritzen M, Bui TH, Olsson K, Eklof O. Ring chromosome 14 in a mentally retarded girl. Acta Paediatr Scand 1980; 69:803-806.
52. Steinlin M, Zurrer M, Martin E, Boesch C, Largo RH, Boltshauser E. Contribution of magnetic resonance imaging in the evaluation of microcephaly. Neuropediatrics 1991; 22:184-189.
53. Sugimoto T, Yasuhara A, Nishida N, Murakami K, Woo M, Kobayashi Y. MRI of the head in the evaluation of microcephaly. Neuropediatrics 1993; 24:4-7.