Evaluation and management of children with holoprosencephaly

Pediatric Neurology

Volumn 31, Issue 2, 2004, Pages 79-88

  Hahn, Jin S ^a,b   Plawner, Lauren L ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN MALFORMATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORRELATION ANALYSIS; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DYSPHAGIA; ELECTROENCEPHALOGRAM; ENDOCRINE DISEASE; EPILEPSY; FEEDING DISORDER; GENETIC COUNSELING; HOLOPROSENCEPHALY; HUMAN; HYDROCEPHALUS; LABORATORY DIAGNOSIS; MEDICAL ASSESSMENT; MICROCEPHALY; MOTOR DYSFUNCTION; NEUROIMAGING; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SEIZURE; SURVIVAL;

CHILD; DISEASE MANAGEMENT; HOLOPROSENCEPHALY; HUMANS; NEUROLOGIC EXAMINATION; NEURORADIOGRAPHY;

EID: 4043180520     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2004.03.006     Document Type: Review

References (62)

1. Golden J.A. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev. 21:1999;513-521
2. Matsunaga E., Shiota K. Holoprosencephaly in human embryos Epidemiologic studies of 150 cases. Teratology. 16:1977;261-272
3. Cohen M.M. Jr. Perspectives on holoprosencephaly Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet. 34:1989;271-288
4. Croen L.A., Shaw G.M., Lammer E.J. Holoprosencephaly Epidemiologic and clinical characteristics of a California population. Am J Med Genet. 64:1996;465-472
5. Rasmussen S.A., Moore C.A., Khoury M.J., Cordero J.F. Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992. Am J Med Genet. 66:1996;320-333
6. Bullen P.J., Rankin J.M., Robson S.C. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol. 184:2001;1256-1262
7. Ming J.E., Muenke M. Holoprosencephaly From Homer to Hedgehog. Clin Genet. 53:1998;155-163
8. Barkovich A.J., Quint D.J. Middle interhemispheric fusion An unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 14:1993;431-440
9. Simon E.M., Hevner R.F., Pinter J.D., et al. The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 23:2002;151-155
10. Simon E.M., Hevner R., Pinter J.D., et al. Assessment of the deep gray nuclei in holoprosencephaly. AJNR Am J Neuroradiol. 21:2000;1955-1961
11. Plawner L.L., Delgado M.R., Miller V.S., et al. Neuroanatomy of holoprosencephaly as predictor of function Beyond the face predicting the brain. Neurology. 59:2002;1058-1066
12. Taylor A.I. Autosomal trisomy syndromes A detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet. 5:1968;227-252
13. Olsen C.L., Hughes J.P., Youngblood L.G., Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children New York State, 1984-1989. Am J Med Genet. 73:1997;217-226
14. Young I.D., Madders D.J. Unknown syndrome Holoprosencephaly, congenital heart defects, and polydactyly. J Med Genet. 24:1987;714-715
15. SiebertJR, Cohen MM Jr., Sulik KK, et al. Syndromes. In: Holoprosencephaly. An overview and atlas of cases. New York: Wiley-Liss, 1990:337-85
16. Kelley R.L., Roessler E., Hennekam R.C., et al. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet. 66:1996;478-484
17. Roessler E., Muenke M. Holoprosencephaly A paradigm for the complex genetics of brain development. J Inherit Metab Dis. 21:1998;481-497
18. Ming J.E., Muenke M. Multiple hits during early embryonic development Digenic diseases and holoprosencephaly. Am J Hum Genet. 71:2002;1017-1032
19. Roessler E., Belloni E., Gaudenz K., et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 14:1996;357-360
20. MingJE, Kaupas ME, Roessler E, et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 2002;110:247-301
21. Cohen M.M. Jr. The hedgehog signaling network. Am J Med Genet. 123A:2003;5-28
22. de la Cruz J.M., Bamford R.N., Burdine R.D., et al. A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet. 110:2002;422-428
23. Mizugishi K., Aruga J., Nakata K., Mikoshiba K. Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins. J Biol Chem. 276:2001;2180-2188
24. Oliver G., Mailhos A., Wehr R., Copeland N.G., Jenkins N.A., Gruss P. Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development. Development. 121:1995;4045-4055
25. Nanni L., Croen L.A., Lammer E.J., Muenke M. Holoprosencephaly Molecular study of a California population. Am J Med Genet. 90:2000;315-319
26. Nanni L., Ming J.E., Bocian M., et al. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 8:1999;2479-2488
27. Cohen M.M. Jr., Shiota K. Teratogenesis of holoprosencephaly. Am J Med Genet. 109:2002;1-15
28. Barr M. Jr., Hanson J.W., Currey K., et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr. 102:1983;565-568
29. Croen L.A., Shaw G.M., Lammer E.J. Risk factors for cytogenetically normal holoprosencephaly in California A population-based case-control study. Am J Med Genet. 90:2000;320-325
30. Kotzot D., Weigl J., Huk W., Rott H.D. Hydantoin syndrome with holoprosencephaly A possible rare teratogenic effect. Teratology. 48:1993;15-19
31. Holmes L.B., Harvey E.A. Holoprosencephaly and the teratogenicity of anticonvulsants. Teratology. 49:1994;82
32. Rosa F. Holoprosencephaly and antiepileptic exposures. Teratology. 51:1995;230
33. De Wals P., Bloch D., Calabro A., et al. Association between holoprosencephaly and exposure to topical retinoids Results of the EUROCAT Survey. Paediatr Perinat Epidemiol. 5:1991;445-447
34. Byrne P.J., Silver M.M., Gilbert J.M., Cadera W., Tanswell A.K. Cyclopia and congenital cytomegalovirus infection. Am J Med Genet. 28:1987;61-65
35. Cohen M.M. Jr. Perspectives on holoprosencephaly Part I. Epidemiology, genetics, and syndromology. Teratology. 40:1989;211-235
36. Wallis D., Muenke M. Mutations in holoprosencephaly. Hum Mutat. 16:2000;99-108
37. Muenke M., Gurrieri F., Bay C., et al. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci U S A. 91:1994;8102-8106
38. Simon E.M., Hevner R.F., Pinter J.D., et al. The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology. 43:2001;787-791
39. Barkovich A.J., Simon E.M., Clegg N.J., Kinsman S.L., Hahn J.S. Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. AJNR Am J Neuroradiol. 23:2002;143-150
40. Barkovich A.J., Simon E.M., Glenn O.A., et al. MRI shows abnormal white matter maturation in classical holoprosencephaly. Neurology. 59:2002;1968-1971
41. Lewis A.J., Simon E.M., Barkovich A.J., et al. Middle interhemispheric variant of holoprosencephaly A distinct cliniconeuroradiologic subtype. Neurology. 59:2002;1860-1865
42. Simon E.M., Barkovich A.J. Holoprosencephaly New concepts. Magn Reson Imaging Clin North Am. 9:2001;149-164
43. StashinkoEE, Clegg NJ, Kammann HA, et al. A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet 2004;128A:114-119
44. Young J.N., Oakes W.J., Hatten H.P. Jr. Dorsal third ventricular cyst An entity distinct from holoprosencephaly. J Neurosurg. 77:1992;556-561
45. Barkovich A.J., Simon E.M., Walsh C.A. Callosal agenesis with cyst A better understanding and new classification. Neurology. 56:2001;220-227
46. Barr M. Jr., Cohen M.M. Jr. Holoprosencephaly survival and performance. Am J Med Genet. 89:1999;116-120
47. Hahn J.S., Delgado M.R., Clegg N.J., et al. Electroencephalography in holoprosencephaly Findings in children without epilepsy. Clin Neurophysiol. 114:2003;1908-1917
48. DeMyer W., White P.T. EEG in holoprosencephaly (arhinencephaly). Arch Neurol. 11:1964;507-520
49. Watanabe K., Hara K., Iwase K. The evolution of neurophysiological features in holoprosencephaly. Neuropädiatrie. 7:1976;19-41
50. Clegg N.J., Gerace K.L., Sparagana S.P., Hahn J.S., Delgado M.R. Holoprosencephaly A review. Am J END Technol. 42:2002;59-72
51. Cameron F.J., Khadilkar V.V., Stanhope R. Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. Eur J Pediatr. 158:1999;97-102
52. Hasegawa Y., Hasegawa T., Yokoyama T., Kotoh S., Tsuchiya Y. Holoprosencephaly associated with diabetes insipidus and syndrome of inappropriate secretion of antidiuretic hormone. J Pediatr. 117:1990;756-758
53. Van Gool S., de Zegher F., de Vries L.S., et al. Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities A case report. Eur J Pediatr. 149:1990;621-622
54. Takahashi S., Miyamoto A., Oki J., Saino T., Inyaku F. Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder. Pediatr Neurol. 13:1995;175-177
55. Stanhope R., Traggiai C. Endocrinopathies associated with midline cerebral and cranial malformations. J Pediatr. 140:2002;252-255
56. KovarC, Plawner L, Sweet V, Lewis A, Hahn J. Cognitive profiles of children with holoprosencephaly. Arch Clin Neuropsychol 2001;16:781
57. Roach E., Demyer W., Conneally P.M., Palmer C., Merritt A.D. Holoprosencephaly Birth data, genetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 11:1975;294-313
58. Filly R.A., Chinn D.H., Callen P.W. Alobar holoprosencephaly Ultrasonographic prenatal diagnosis. Radiology. 151:1984;455-459
59. Nyberg D.A., Mack L.A., Bronstein A., Hirsch J., Pagon R.A. Holoprosencephaly Prenatal sonographic diagnosis. AJR Am J Roentgenol. 149:1987;1051-1058
60. Tongsong T., Wanapirak C., Chanprapaph P., Siriangkul S. First trimester sonographic diagnosis of holoprosencephaly. Int J Gynaecol Obstet. 66:1999;165-169
61. Sonigo P.C., Rypens F.F., Carteret M., Delezoide A.L., Brunelle F.O. MR imaging of fetal cerebral anomalies. Pediatr Radiol. 28:1998;212-222
62. Patterson M.C. Holoprosencephaly The face predicts the brain; The image predicts its function. Neurology. 59:2002;1833-1834