Lobar holoprosencephaly with a median cleft: Case report

Cleft Palate-Craniofacial Journal

Volumn 46, Issue 5, 2009, Pages 549-554

  Gawrych, Elzbieta ^a   Janiszewska Olszowska, Joanna ^a   Walecka, Anna ^a   Syryńska, Maria ^a   Chojnacka, Hanna ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

Brain malformation; Premaxillary agenesis

Indexed keywords

VALPROIC ACID; VIGABATRIN;

ARTICLE; CASE REPORT; CLEFT LIP; CLEFT PALATE; CRANIOFACIAL SURGERY; ECHOENCEPHALOGRAPHY; FEEDING DISORDER; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HOLOPROSENCEPHALY; HUMAN; HYPOTELORISM; INFANT; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE;

CLEFT LIP; CLEFT PALATE; FEMALE; FOLLOW-UP STUDIES; HOLOPROSENCEPHALY; HUMANS; INFANT, NEWBORN; MAXILLA; NASAL BONE; NASAL SEPTUM;

EID: 69949155970     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/08-059.1     Document Type: Article

References (38)

1. Agarwal R. Prenatal diagnosis of holoprosencephaly: pictorial essay. Indian J Radiol Imaging. 2000;10:93-98. (Pubitemid 30426642)
2. Apesos J, Anigian GM. Median cleft lip: its significance and surgical repair. Cleft Palate Craniofac J. 1993;30:94-96. (Pubitemid 23060706)
3. Berge SJ, Van De Vondel PT, Appel T, Niederhagen B, Von Lindern JJ, Reich RH, Hansmann M. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol. 2001;18:422-431. (Pubitemid 33078408)
4. Blaas HG, Eik-Nes SH, Vainio T, Isaksen CV. Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three- dimensional ultrasound. Ultrasound Obstet Gynecol. 2000;15:86-87. (Pubitemid 33108670)
5. Blaas HG, Eriksson AG, Salvesen KA, Isaksen CV, Christensen G, Møllerløkken G, Eik-Nes SH. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002;19:24-38. (Pubitemid 34107450)
6. Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, et al. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet. 2001;10:791-796. (Pubitemid 32331589)
7. Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole S. Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature. Arch Gynecol Obstet. 2007;275:385-387. (Pubitemid 46466373)
8. Chuang L, Kuo PL, Yang HB, Chien CH, Chen PY, Chang CH, Chang FM. Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32) pat inherited from the father with double translocations. Prenat Diagn. 2003;23:134-137.
9. Cohen MM. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics and syndromology. Teratology. 1989;40:211-235.
10. De Meyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963;23:1-36.
11. De Meyer W, Zeman W, Palmer CG. Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate. Neurology. 1963;13:913-918..
12. De Meyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964;34:256-263.
13. El-Hawrani A, Sohn M, Noga M, El-Hakim H. The face does predict the brain-midline facial and forebrain defects uncovered during the investigation of nasal obstruction and rhinorrhea. Case report of holoprosencephaly and its classifications. Int J Pediatr Otorhinolaryngol. 2006;70:935-940.
14. Fernandez BA, Siegel-Bartelt J, Herbrick JAS, Teshima C, Scherer SW. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. Clin Genet. 2005;68:349-359. (Pubitemid 41341614)
15. Filly RA, Chinn DH, Callen PW. Alobar holoprosencephaly: ultrasonographic prenatal diagnosis. Radiology. 1984;151:455-459. (Pubitemid 14132870)
16. Hahn JS, Plawner LL. Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 2004;31:79-88.
17. Hall RK. Solitary median maxillary central incisor (SMMCI) syndrome. Orphanet J Rare Dis. 2006:1-12.
18. Hendi JM, Nemerofsky R, Stolman C, Granick MS. Plastic surgery considerations for holoprosencephaly patients. J Craniofac Surg. 2004;15:675-677.
19. Hoffman-Tretin JC, Horoupian DS, Koenigsberg M, Schnur MJ, Llena JF. Lobar holoprosencephaly with hydrocephalus: antenatal demonstration and differential diagnosis. J Ultrasound Med. 1986;5:691-697. (Pubitemid 17214809)
20. Kjaer I, Becktor KB, Lisson J, Gormsen C, Russel BG. Face, palate and craniofacial morphology in patients with a solitary median maxillary central incisor. Eur J Orthod. 2001;23:63-73. (Pubitemid 33671992)
21. Kjaer I, Keeling JW, Hansen BF, Becktor KB. Midline skeletodental morphology in holoprosencephaly. Cleft Palate Craniofac J. 2002;39:357-363.
22. Lazaro L, Dubourg C, Pasquier R, Le Duff F, Blayau M, Durou MR, de la Pintiere AT, Aquilella C, David V, Odent S. Phenotypic and molecular variability of the holoprosencephalic spectrum. Am J Med Genet. 2004;129A:21-24. (Pubitemid 38989038)
23. Lung RNT, Blanchon Y, Ciraru-Vigneron N, Rabbe A, Sauvanet E, Barrier J. Le diagnostic anténatal de l'holoprosencéphalie et ses conséquences. J Gynecol Obstet Biol Reprod. 1989;18:193-201.
24. Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet. 2002;71:1017-1032. (Pubitemid 35305222)
25. Muenke M, Bone LJ, Mitchell HF, Hart I, Walton K, Hall-Johnson K, Ippel EF, Dietz-Band J, Kvaløy K, Fan CM, et al. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am J Hum Genet. 1995;57:1074-1079.
26. Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RCM, Schaefer GB, Weik LA, Lubinsky MS, 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. 1994;91:8102-8106. (Pubitemid 24253894)
27. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Schmulders C, Giannotti A, Imazumi K, Jones KL, Campo MD, 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. 1999;8:2479-2488.
28. Pilu G, Sandri F, Perolo A, Giangaspero F, Cocchi G, Salvioli GP, Bovicelli L. Prenatal diagnosis of lobar holoprosencephaly. Ultrasound Obstet Gynecol. 1992;2:88-94.
29. Redlinger-Grosse K, Bernhardt BA, Berg K, Muenke M, Biesecker BB. The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet. 2002;112:369-378.
30. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer S, Tsui LC, Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996;14:357-360.
31. Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet. 1997;6:1847-1853. (Pubitemid 27460359)
32. Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Altaba AR, Muenke M. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003;100:13424-13429. (Pubitemid 37444758)
33. Roessler E, Muenke M. How a hedgehog might see holoprosencephaly. Hum Mol Genet. 2003;12:15-25. (Pubitemid 36452283)
34. Segawa Y, Itokazu N, Hirose A, Nakagawa S, Takashima S. A case of partial 14q- with facial features of holoprosencephaly and hydranencephaly. Pediatr Neurol. 2007;37:51-54. (Pubitemid 47030786)
35. Tonni G, Centini G, Rosignoli L. Prenatal screening for fetal face and clefting in a prospective study on low-risk population: can 3- and 4-dimensional ultrasound enhance visualization and detection rate? Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;100:420-426.
36. Wallis DE, Muenke M. Molecular mechanism of holoprosencephaly. Mol Genet Metab. 1999;68:126-138.
37. Witters I, Moerman P, Muenke M, Van Assche FA, Devriendt K, Legius E, Van Schoubroeck D, Fryns JP. Semilobar holoprosencephaly in a 46,XY female fetus. Prenat Diagn. 2001;21:839-841. (Pubitemid 33064078)
38. Yamada S. Embryonic holoprosencephaly: pathology and phenotypic variability. Congenit Anom. 2006;46:164-171. (Pubitemid 44707182)