Hydrolethalus: A midline malformation syndrome with optic nerve coloboma and hypoplasia

Acta Neuropathologica

Volumn 91, Issue 5, 1996, Pages 511-518

  Kivelä, Tero ^a   Salonen, Riitta ^a   Paetau, Anders ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Congenital malformations; Developmental cataract; Hydrocephalus; Immunohistochemistry; Optic nerve coloboma

Indexed keywords

ADULT; ANTERIOR EYE SEGMENT; ARTICLE; CASE REPORT; CHOROID; COLOBOMA; DIFFERENTIAL DIAGNOSIS; FEMALE; FETUS; HISTOPATHOLOGY; HUMAN; INDUCED ABORTION; LENS FIBER; MALE; MALFORMATION SYNDROME; MICROPHTHALMIA; MICROSCOPY; OPTIC NERVE HYPOPLASIA; ORBIT CYST; PRIORITY JOURNAL; RETINA;

ABNORMALITIES, MULTIPLE; ADULT; BRAIN; COLOBOMA; EMBRYONIC AND FETAL DEVELOPMENT; FEMALE; HUMANS; HYDROCEPHALUS; MIDDLE AGED; OPTIC NERVE; POLYHYDRAMNIOS; PREGNANCY; SYNDROME;

EID: 0029878282     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050459     Document Type: Article

References (45)

1. Adetoro OO, Komolafe F, Anjorin A (1984) Hydrolethalus syndrome in consecutive African siblings. Pediatr Radiol 14: 422-424
2. André SA, Cordier MP, Beaufrère AM, Guillaud M, Robert JM (1988) Holoprosenćphalie, polydactylie. cardiopathie: nouveau syndrome ou un nouveau cas d'hydrolethalus? J Genet Hum 36: 463-468
3. Anyane-Yeboa K, Collins M, Kupsky W, Maidman J, Malin J, Yeh M (1987) Hydrolethalus ( Salonen-Herva-Norio) syndrome: further clinicopathological delineation. Am J Med Genet 26: 899-907
4. Aughton DJ. Cassidy SB (1987) Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. Am J Med Genet 27: 935-942
5. Bachman H, Clark RD, Salahi W (1990) Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. J Med Genet 27: 50-52
6. Brodsky MC (1994) Congenital optic disk anomalies. Surv Ophthalmol 39: 89-112
7. Brodsky MC, Glasier CM (1993) Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol 111: 66-74
8. Cohen MM Jr. Gorlin RJ (1991) Pseudo-trisomy 13 syndrome. Am J Med Genet 39: 332-335
9. Cohen MM Jr, Gorlin RJ (1992) Problems in the delineation of pseudotrisomy 13 syndrome. Am J Med Genet 43: 636-638
10. Dobyns WB, Pagon RA, Armstrong D, Curry CJR, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinov M, Zimmerman RL (1989) Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32: 195-210
11. Font RL, Zimmerman LE (1971) Intrascleral smooth muscle in coloboma of the optic disk. Electron microscopic verification. Am J Ophthalmol 72: 452-457
12. Hartikainen-Sorn A-L, Kirkinen P, Herva R (1983) Prenatal detection of hydrolethalus syndrome. Prenat Diagn 3: 219-224
13. Haverkamp F, Zerres K, Fahnenstich H, Köhler W, Kowalewski S (1990) 7 Wochen alter Säugling mit Hydrolethalus-Syndrom: Fallbericht, Differentialdiagnosen und Literaturüberblick. Klin Pädiatr 202: 387-390
14. Henkel K-E, Pfeiffer RA, Stöß H (1993) Das Hydrolethalussyndrom. Pathologe 14: 35-36
15. Hennekam RCM, Van Noort G, De La Fuente AA (1991) Familial holoprosencephaly, heart defects, and polydactyly. Am J Med Genet 41: 258-262
16. Herva R, Seppänen U (1984) Roentgonologic findings of the hydrolethalus syndrome. Pediatr Radiol 14: 41-43
17. Hingorani SR, Pagon RA, Shepard TH, Kapur RP (1991) Twin fetuses with abnormalities that overlap with three midline malformation complexes. Am J Med Genet 41: 230-235
18. Hotchkiss ML, Green WR (1979) Optic nerve aplasia and hypoplasia. J Pediatr Ophthalmol Strabismus 16: 225-240
19. Jacobs M. Taylor D (1991) The systemic and genetic significance of congenital optic disc anomalies. Eye 5: 470-475
20. Kivelä T. Fuchs U, Tarkkanen A (1992) Cytoskeleton in neuroectodermally derived epithelial and muscle cells of the human iris and ciliary body. J Histochem Cytochem 40: 1517-1526
21. Krassikoff N, Konick L. Gilbert EF (1987) The hydrolethalus syndrome. Birth Defects 23: 411-419
22. Lambert SR, Hoyt CS, Narahara MH (1987) Optic nerve hypoplasia. Surv Ophthalmol 32: 1-9
23. Lieb W, Rochels R, Gronemeyer U ( 1990) Microphthalmos with colobomatous orbital cyst: clinical, histological. immunohistological, and electronmicroscopic findings. Br J Ophthalmol 74: 59-62
24. Lurie IW, Wulfsberg EA (1993) "Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum. Am J Med Genet 47: 405-409
25. MacRae DW, Howard RO, Albert DM, Hsia YE (1972) Ocular manifestations of the Meckel syndrome. Arch Ophthalmol 88: 106-113
26. Mosier MA, Lieberman MF, Green WR, Knox DL (1987) Hypoplasia of the optic nerve. Arch Ophthalmol 96: 1437-1442
27. Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH (1991) On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall-syndrome. Am J Med Genet 41: 548-556
28. Paetau A, Salonen R, Herva R (1994) Neuropathology of the hydrolethalus syndrome. Brain Pathol 4: 392
29. Pagon RA (1981) Ocular coloboma. Surv Ophthalmol 25: 223-236
30. Pedler C (1961) Unusual coloboma of the optic nerve entrance. Br J Ophthalmol 45: 803-807
31. Pryde PG, Qureshi F, Hallak M, Kupsky W, Johnson MP, Evans MI (1993) Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes. Am J Med Genet 46: 537-541
32. Roberts-Harry J, Green SH, Willshaw HE (1990) Optic nerve hypoplasia: associations and management. Arch Dis Child 65 103-106
33. Romeis B (1968) Mikroskopische Technik, 16th edn. Oldenbourg, Munich, p 281
34. Salonen R, Herva R (1990) Hydrolethalus syndrome. J Med Genet 27: 756-759
35. Salonen R, Herva R, Norio R (1981) The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet 19: 321-330
36. Sharma AK, Phadke S, Chandra K, Upreti M, Khan EM, Naveed M, Agarwal SS (1992) Overlap between Majewski and hydrolethalus syndromes: a report of two cases. Am J Med Genet 43: 949-953
37. Siffring PA, Forrest TS, Frick MP (1991) Sonographic detecion of hydrolethalus syndrome. J Clin Ultrasound 19: 43-47
38. Skarf B, Hoyt CS (1984) Optic nerve hypoplasia in children. Association with anomalies of the endocnne and CNS. Arch Ophthalmol 102: 62-67
39. Toriello HV, Bauserman SC (1985) Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. Am J Med Genet 21: 93-103
40. Uusitalo M, Kivelä T, Tarkkanen A (1993) Identification of a novel element in the human eye. The inner connective tissue layer of the ciliary body characterized with antibodies to the HNK-l epitope. Invest Ophthalmol Vis Sci 34: 2372-2381
41. Verloes A, Aymé S. Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J (1991) Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet 28: 297-303
42. Verloes A, Gillerot Y, Langhendries J-P, Fryns J-P, Koulischer L (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet 43: 669-677
43. Warburg M (1987) Ocular malformations and lissencephaly. Eur J Pediatr 146: 450-452
44. Whinery RD, Blodi FC (1963) Hypoplasia of the optic nerve. A clinical and histopathologic correlation. Trans Am Acad Ophthalmol Otolaryngol 67: 733-738
45. Willis R, Zimmerman LE, O'Grady R, Smith RS, Crawford B (1972) Heterotopic adipose tissue and smooth muscle in the optic disc. Arch Ophthalmol 88: 139-146