Spectrum of holoprosencephaly

Indian Journal of Pediatrics

Volumn 71, Issue 7, 2004, Pages 593-597

  Thakur, Seema ^a   Singh, Renu ^a   Pradhan, M ^a   Phadke, Shubha R ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Cyclopia; Holoprosencephaly; Sonic hedgehog gene

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CLEFT LIP; CLINICAL ARTICLE; CLINICAL EXAMINATION; CYCLOPIA; DEVELOPMENTAL DISORDER; FAMILY HISTORY; FEMALE; GENE; HOLOPROSENCEPHALY; HUMAN; INFANT; KARYOTYPING; MALE; NEWBORN; RECURRENCE RISK; SAMPLING; SONIC HEDGEHOG GENE; SPECTRUM;

EID: 4043106265     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02724118     Document Type: Article

References (20)

1. Cohen MM Jr. Perspectives on holoprosencephaly. Part I. Epidimiology, genetics and syndromology. Teratology 1989a; 40: 211-235.
2. Cohen MM Jr. Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities and discontinuities. Am J Med Genet 1989b; 34: 271-288.
3. DeMyer WE, Zeman W, Palmer CG. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arrhinencephaly). Pediatrics 1964; 34: 256-263.
4. Cohen MM Jr, Sulik KK. Perspectives on holoprosencephaly, Part II.Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach and experimental studies. J Craniofacial Genet Dev Biol 1992; 12: 196-224.
5. Oslen CL, Hughes JP, Youngblood LG, Sharpe-Stimae M. Epidimiology of holoprosencephaly and phenotypic characterstics of affected children: New York State 1984-1989. Am J Med Genet 1997; 73: 217-226
6. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: Epidimiologic study of 150 cases. Teratology 1977; 16: 261-272.
7. Rasmussen SA, Moore CA, Khoury MJ, Corder JF. Descriptive epidimiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta. 1968-1992. Am J Med Genet 1996; 66: 320-333.
8. Roach E, De Myer W, Palmer K et al. Holoprosencephaly: Birth data, genetic and demographic analysis of 30 families. Birth Defects 1975; 11(2): 294-313.
9. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiology and clinical characterstics of a California population. Am J Med Genet 1996; 64: 465-472.
10. DeMyer, W. Holoprosencephaly (Cyclopia-arhinencephaly). In PJ. Vinken and G. W. Bruyn, eds. Handbook of Clinical Neurology. Amsterdam, North Holland Publishing Co., 1977, ch. 18, 431-478.
11. Sedano HO, Gorlin RJ. The oral manifestations of cyclopia. Oral Surg 1963; 16: 823-838.
12. Apacik CS, Rivero M, Knepper JL et al. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. Hum Genet 2003; 113: 170-177.
13. Roessler E, Belloni E, Gaudenz K et al. Mutations in human sonic hedge hog gene cause holoprosencephaly. Nat Genet 1996; 14: 357-360.
14. Brown SA, Warburton D, Brown LY. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 1998; 20: 180-183.
15. Wallis D, Muenke M. Mutations in holoprosencephaly. Hum Mutat 2000; 16: 99-108.
16. Gripp KW, Wotton D, Edwards MC et al. Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination. Nat Genet 2000; 25: 205-208.
17. Roessler E, Du Y, Ginka A, Dutra A, Neihrs C, Muenke M. The genomic structure, chromosome location, and analysis of human DKK1 head inducer gene as a candidate for holoprosencephaly. Cytogenet Cell Genet 2000; 89: 220-224.
18. Ming JE, Kaupas ME, Roessler E et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG are associated with holoprosencephaly. Human Genet 2002; 110: 297-301.
19. De La Cruz JM, Bamford RN, Burdine RD et al. A loss of function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Human Genet 2002; 110: 422-428
20. Naini L, Ming JE, Steinhaus K et al. The mutational spectrum of sonic hedge hog gene in holoprosencephaly: SHH mutation cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999; 8: 2479-2488.