Abstract
Objective : To conduct a clinical study of holoprosencephaly (HPE).Method : Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available.Results : Six cases were antenatally detected by ultrasound; four cases were stillborn. Three cases were identified by neuroimaging done a part of evaluation of developmental delay or cleft lip. Eleven of them had facial anomalies characteristics of HPE. Two of these had subtle facial features and microcephaly. Karyotype was abnormal in 2 of 7 cases studied.Conclusion : Most of the cases of HPE present antenatally or at birth. Milder forms like lobar and semilobar can present as developmental delay during infancy. Facial anomalies are usually associated with HPE. Chromosomal study of the case and clinical examination of the parents is essential for providing information regarding risk of recurrence to the family.
Similar content being viewed by others
References
Cohen MM Jr. Perspectives on holoprosencephaly. Part I. Epidimiology, genetics and syndromology.Teratology 1989a; 40:211–235.
Cohen MM Jr. Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities and discontinuities.Am J Med Genet 1989b; 34:271–288.
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.
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.
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
Matsunaga E, Shiota K. Holoprosencephaly in human embryos: Epidimiologic study of 150 cases.Teratology 1977; 16: 261–272.
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.
Roach E, De Myer W, Palmer Ket al. Holoprosencephaly: Birth data, genetic and demographic analysis of 30 families.Birth Defects 1975; 11(2): 294–313.
Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiology and clinical characterstics of a California population.Am J Med Genet 1996; 64:465–472.
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.
Sedano HO, Gorlin RJ. The oral manifestations of cyclopia.Oral Surg 1963; 16: 823–838.
Apacik CS, Rivero M, Knepper JLet al. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.Hum Genet 2003; 113:170–177.
Roessler E, Belloni E, Gaudenz Ket al. Mutations in humansonic hedge hog gene cause holoprosencephaly.Nat Genet 1996; 14:357–360.
Brown SA, Warburton D, Brown LY. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.Nat Genet 1998; 20:180–183.
Wallis D, Muenke M. Mutations in holoprosencephaly.Hum Mutat 2000; 16:99–108.
Gripp KW, Wotton D, Edwards MCet al. Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination.Nat Genet 2000; 25:205–208.
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.
Ming JE, Kaupas ME, Roessler Eet al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG are associated with holoprosencephaly.Human Genet 2002; 110:297–301.
De La Cruz JM, Bamford RN, Burdine RDet al. A loss of function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.Human Genet 2002;110:422–428
Naini L, Ming JE, Steinhaus Ket 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.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Thakur, S., Singh, R., Pradhan, M. et al. Spectrum of holoprosencephaly. Indian J Pediatr 71, 593–597 (2004). https://doi.org/10.1007/BF02724118
Issue Date:
DOI: https://doi.org/10.1007/BF02724118