Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome

Acta Neuropathologica

Volumn 92, Issue 6, 1996, Pages 625-630

  Hayashi, M ^a   Sakamoto, K ^b   Kurata, K ^b   Nagata, J ^b   Satoh, J ^a   Morimatsu, Y ^a  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b Tokyo Metropolitan Coll   (Japan)

Author keywords

Cerebellar hypoplasia; Commissural defects; De Lange syndrome; Septo optic dysplasia

Indexed keywords

ANTERIOR COMMISSURE; ARTICLE; AUTOPSY; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CORPUS CALLOSUM; DE LANGE SYNDROME; FEMALE; HUMAN; HYPOTHALAMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEPTUM PELLUCIDUM; VISUAL SYSTEM;

BRAIN; CEREBELLUM; CHILD, PRESCHOOL; DE LANGE SYNDROME; FEMALE; HUMANS; OPTIC NERVE; SEPTUM PELLUCIDUM;

EID: 0029822662     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050571     Document Type: Article

References (23)

1. Arslanian SA, Rothfus WE, Foley TP, Becker DJ (1984) Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. Acta Endocrinol 107:282-288
2. De Lange C (1933) Sur un type nouveau de dégénération (typus Amstelodamensis). Arch Méd Enf 36:713-719
3. Fitz CR (1994) Holoprosencephaly and septo-optic dysplasia. Pediatr Neuroradiol 4:263-281
4. France NE, Crome L, Abraham JM (1969) Pathological features in the de Lange syndrome. Acta Pediatr Scand 58:470-480
5. Hart MN, Malamud N, Ellis WG (1972) The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. Neurology 22:771-780
6. Heckmann H, Ang LC, Casey R, George DH, Lowry N, Shokeir MH (1992) Leigh's disease with clinical manifestations of Cornelia de Lange syndrome. Pediatr Neurosurg 17: 192-195
7. Hirsch JF, Pierre-Kahn A, Renier D, Sainte-Rose C, Hoppe-Hirsch E (1984) The Dandy-Walker malformation. J Neurosurg 61:515-522
8. Jackson L, Kline AD, Koch S (1993) de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47:940-946
9. Jones KL (1988) Smith's recognizable patterns of human malformation, 4th edn. Saunders, Philadelphia, pp 80-83
10. Kouseff BG, Newkirk P, Root AW (1994) Brachmann-de Lange syndrome: 1994 update. Arch Pediatr Adolesc Med 148 :749-755
11. Leech RW, Shuman RM (1986) Holoprosencephaly and related midline cerebral anomalies: a review. J Child Neurol 1: 3-18
12. Lemire RJ, Loeser JD, Leech RW, Alvord EC Jr (1975) Normal and abnormal development of the human nervous system. Harper and Row, Hagerstown
13. Menezes L, Aicardi J, Goutieres F (1988) Absence of the septum pellucidum with porencephalia. A neuroradiologic syndrome with variable clinical expression. Arch Neurol 45: 542-545
14. Michaud J, Mizrahi EM, Urich H (1982) Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol (Berl) 56: 161-166
15. Opitz JM (1985) The Brachmann-de Lange syndrome. Am J Med Genet 22:89-102
16. Pagon RA, Stephan MJ (1984) Septo-optic dysplasia with digital anomalies. J Pediatr 105:966-968
17. Ptacek LJ, Opitz JM, Smith DW, Gerritsen T, Waisman HA (1963) The Cornelia de Lange syndrome. J Pediatr 63:1000-1021
18. Roessmann U, Velasco ME, Small EJ, Hori A (1987) Neuropathology of "septo-optic dysplasia" (de Morsier syndrome) with immunohistochemical studies of the hypothalamus and pituitary gland. J Neuropathol Exp Neurol 46:597-608
19. Sato A, Kajita A, Sugita K, Izumi T, Fukuyama Y, Funata N, Okeda R (1986) Cornelia de Lange syndrome with intracranial germinoma. Acta Pathol Jpn 36:143-149
20. Schlesinger B, Clayton B, Bodian M, Jones KV (1963) Typus degenerativus amstelodamensis. Arch Dis Child 38:349:357
21. Stewart C, Castro-Magana M, Sherman J, Angulo M, Collip PJ (1983) Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. Am J Dis Child 137:484-487
22. Thorner MO, Vance ME, Horvath E, Kovacs K (1992) The anterior pituitary. In: Wilson JD, Foster DW (eds) Williams textbook of endocrinology, 8th edn. Saunders, Philadelphia, pp 221-239
23. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, Reynolds JF (1993) Clinical variability within Brachman-de Lange syndrome: a proposed classification system. Am J Med Genet 47:947-958