Eearly-onset of septo-optic dysplasia. A case report with follow-up;Displasia setto-ottica ad esordio precoce: Descrizione di un caso con follow-up

Minerva Pediatrica

Volumn 54, Issue 1, 2002, Pages 57-62

  Greco, F ^a   Finocchiaro, M ^a   Polizzi, A ^a   Caruso, M ^b  

^a UNIVERSITY OF CATANIA   (Italy)

^b Ctro Endocrinol Diabetologia P

Author keywords

Abnormalities, multiple; Hypopituitarism; Optic nerve diseases, complications; Optic nerve diseases, diagnosis; Psychomotor disorders

Indexed keywords

AGE; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; FEMALE; FOLLOW UP; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASE; SEPTUM PELLUCIDUM;

AGE FACTORS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASES; SEPTUM PELLUCIDUM;

EID: 0036483752     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Reeves DL. Congenital absence of septum pellucidum. Johns Hopkins Med J 1941;69:61-71.
2. De Morsier G. Etudes sur les dysraphies cranio-encephaliques: III. Agenesis du septum lucidum avec malformation du tractus optique: la dysplasie septo-oplique. Schweiz Arch Neurol Neurochir Psychiatr 1956;77:267-92.
3. Hoyt WF, Kaplan SL, Grumbach MM, Glaser JS. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970;1: 893-4.
4. Hellstrom A, Wiklund LM, Svensson E. The morphologic spectrum of optic nerve hypoplasia. J AAPOS 1999;3(4):212-20.
5. Hellstrom A. Optic nerve morphology may reveal adverse events during prenatal and perinatal life-digital image analysis. Surv Ophtalmol 1999;44(Suppl 1): S63-73.
6. Wilnow S, Kiess W, Butenandt O, Dörr HG, Enders A, Strasser-Vogel B et al. Endocrine disorders in septooptic dysplasia (De Morsier syndrome) - evaluation and follow-up of 18 patients. Eur J Pediatr 1996;155:179-84.
7. Margalith D, Tze WJ, Jan JE. Congenital optic nerve hypoplasia with hypotalamic-pituitary dysplasia. A review of 16 cases. Am J Dis Child 1985;139:361-6.
8. Roberts-Harry J, Green SH, Wilshaw HE. Optic nerve hypoplasia: association and management. Arch Dis Child 1990;65:103-6.
9. Cameron FJ, Khadilkar VV, Stanhope R. Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. Eur J Pediatr 1999;158:97-102.
10. Hellstrom A, Aronsson M, Axelson C, Kyllerman M, Kopp S, Steffenburg S et al. Children with septo-optic dysplasia-how to improve and sharpen the diagnosis. Horm Res 2000;53(suppl 1):19-25.
11. Hellstrom A, Chatelain P, Cutfield W, Jonsonn P, Price A, Wilton P et al. Septo-optic dysplasia: Experience with 151 cases in KIGS (Pharmacia & Upjohn International Growth Database). In: Ranke M, Wilton P, editors. Growth Hormone Therapy in KIGS: Ten Years' Experience 1987-1997. Heidelberg: Barth JA 1999;14:147-57.
12. Brodsky MC, Conte FA, Taylor D, Hoyt CS, Mrak RE. Sudden death in septo-optic dysplasia: report of 5 cases. Arch Ophtalmol 1997;115:66-70.
13. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 1998;19:125-33.
14. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Wales JK et al. HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. Acta Paediatr Suppl 1999;88(433):49-54.
15. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Wales JK et al. Molecular genetics of septo-optic dysplasia. Horm Res 2000;53(Suppl 1):26-33.
16. Dattani MT, Robinson IC. The molecular basis for developmental disorders of the pituitary gland in man. Clin Genet 2000;57(5):337-46.