Microcephaly with normal intelligence, and chorioretinopathy

Ophthalmic Genetics

Volumn 20, Issue 4, 1999, Pages 259-264

  Abdel Salam, Ghada M H ^a   Vogt, Gábor ^b   Halász, Adrienne ^c   Czeizel, Andrew E ^a,d  

^a NATIONAL CENTER FOR EPIDEMIOLOGY   (Hungary)

^b Dept of Psychiatry   (Hungary)

^c Heim Pál Childre's Hospital   (Hungary)

^d Torokvesz lejto 32   (Hungary)

Author keywords

Congenital hypertrophy; Gardner's syndrome; Microcephaly; Normal intelligence; Of retinal pigment epithelium

Indexed keywords

VISUAL PIGMENT;

ADULT; ARTICLE; CASE REPORT; CHORIORETINOPATHY; DISEASE ASSOCIATION; EXON; EXTERNAL EAR MALFORMATION; FEMALE; FINGER MALFORMATION; GENE MUTATION; HUMAN; INTELLIGENCE; MANDIBLE HYPOPLASIA; MENTAL DEFICIENCY; MICROCEPHALY; NEUROLOGIC DISEASE; PRIORITY JOURNAL;

EID: 0033389858     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.4.259.2268     Document Type: Article

References (33)

1. McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol 1966;75:597-600.
2. Schmidt B, Jaeger W, Neubauer H. Ein mikrozephalie-syndrom mit atypischer tapetoretinaler degeneration bei 3 geschwistern. Klin Monatsbl Augenheilkd 1968;150:188-196.
3. Koch G. Genealogisch-demographische Untersuchungen über Mikrocephalie in Westfalen. Forschungsber Landes Nordhein-Westfalen 1968;1963:99.
4. Cantu JM, Rojas JA, Garcia-Cruz D, Hernadez A, Pagan P, Fragoso R, Manzano C. Autosomal recessive microcephaly associated with chorioretinopathy. Hum Genet 1977;36:243-247.
5. Genderen MM, Schuil J, Meire FM. Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases. Ophthalmic Genet 1997;18:199-207.
6. Atchaneeyasakul L, Linck L, Weleber RG. Microcephaly with chorioretinal degeneration. Ophthalmic Genet 1998;19:39-48.
7. Parke JT, Riccardi VM, Lewis RA, Ferrell RE. A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am J Med Genet 1984;17:585-594.
8. Sheriff SMM, Hegab SA. A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation. Ophthalmic Surg 1988;19:353-355.
9. Giradello FM, Offerhaus GJ, Traboulsi EI, Graybeal JC, Maumenee IH, Krush AJ, et al. Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis. Gut 1991;32:1170.
10. Powell SM, Petersen GM, Krush AJ, Booker S, Jin Jen BA, Giardiello FM, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-1987.
11. Van der Luijt R, Khan PM, Vasen H, Van Leeuwen C, Tops C, Den Dunnen J, Fodde R. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1994;20:1-4.
12. Holmes LB. Impact of the detection and prevention of developmental abnormalities in the human studies. Reprod Toxicol 1997;2/3:267-269.
13. Holmes LB, Mack C, Moser HW, Pant SS, Halldorsson S, Matzilevich B. Mental retardation. In: An Atlas of Diseases With Associated Physical Abnormalities. New York: Macmillan, 1972; 117-143.
14. O'Connell EJ, Feldt RH, Stickler GB. Head circumference, mental retardation and growth failure. Pediatrics 1965;36:62-66.
15. Pryor HB, Thelander H. Abnormally small head size and intellect in children. J Pediatr 1968;73:593-598.
16. Sell CJ. Microcephaly in a normal school population. Pediatrics 1977:59:262-265.
17. Weemeas CMR, Hustinx TWJ, Scheres JMJC, Van Munster PJJ, Bakkeren JAJM, Taalman RDFM. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 1981:70:557-564.
18. Seemanova E, Passarge E, Beneskova D, Houstek J, Kasal P, Sevcikova M. Familial microcephaly with normal intelligence, immunodeficiency, and risk of lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet 1985;20:639-648.
19. Maraschio P, Peretti D, Lambiase S, Lo Curto F, Caufin D, Gargantini L, Minoli L, Zuffardi O. A new chromosome instability disorder. Clin Genet 1986;30:353-365.
20. Teebi AS, Al-Awadi SA, White AG. Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet 1987;26:355-359.
21. Rizzo R, Pavone L. Autosomal recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears and curved nose. Am J Med Genet 1995;59:421-425.
22. Purcell JJ, Shields JA. Hypertrophy with hyperpigmentation of the retinal pigment epithelium. Arch Ophthalmol 1975;93:1122-1126.
23. Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJA, Yardley JH, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardener's syndrome. N Engl J Med 1987;316:661-667.
24. Valanzano R, Cama A, Volpe R, Curia MC, Mencucci R, Palmirotta R, Battista P, Ficari F, Mariani-Costantini R, Tonelli F. Congenital hypertrophy of retinal pigment epithelium in familial adenomatous polyposis. Cancer 1996;78:2400-2410.
25. Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 1980;90:661-667.
26. Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatous. Am J Hum Genet 1953;5:139.
27. Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA, et al. Gardner syndrome in man with an interstitial deletion of 5q. Am J Med Genet 1986;25:473-476.
28. Bodmer WE, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987;328:614-616.
29. Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science 1987;238:1411-1413.
30. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, et al. Identification of FAP locus genes from 5q21. Science 1991;253:661-665.
31. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 in FAP and colorectal cancer patients. Science 1991;253:665-669.
32. Groden J, Thliveris A, Samowitz, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
33. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Boker T, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmological lesions (CHRPE) associated with APC mutation beyond codon 1444. Hum Mol Genet 1995;4:337-340.