Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome

Prenatal Diagnosis

Volumn 19, Issue 4, 1999, Pages 375-378

  Mitra, Avick G ^a   Salvino, Ann R ^a   Spence, J Edward ^a  

^a CAROLINAS MEDICAL CENTER   (United States)

Author keywords

Fatal infantile olivopontocerebellar hypoplasia; Fetal seizures; Polyhydramnios; Prenatal diagnosis; Ultrasound

Indexed keywords

ADULT; APNEA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN CORTEX ATROPHY; BRAIN FOURTH VENTRICLE; BRAIN THIRD VENTRICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBELLUM; CLINICAL FEATURE; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MOVEMENT; GASTROINTESTINAL MOTILITY; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; HYPERREFLEXIA; HYPOPLASIA; LATERAL BRAIN VENTRICLE; MEDULLA OBLONGATA; MUSCLE HYPERTONIA; MYOCLONUS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIVOPONTOCEREBELLAR ATROPHY; PONS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY FAILURE; SEIZURE; STOMACH;

ADULT; CEREBELLUM; CEREBRAL VENTRICLES; FATAL OUTCOME; FEMALE; FETAL MOVEMENT; GESTATIONAL AGE; HUMANS; MAGNETIC RESONANCE IMAGING; OLIVOPONTOCEREBELLAR ATROPHIES; POLYHYDRAMNIOS; PREGNANCY; STOMACH; ULTRASONOGRAPHY, PRENATAL;

EID: 0032965371     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199904)19:4<375::AID-PD528>3.0.CO;2-J     Document Type: Article

References (15)

1. Abrams LA, Balducci J. 1996. Fetal seizures: a case study. Obstet Gynecol 88: 661-662.
2. Albrecht S, Schneider MC, Belmont J, Armstrong DL. 1993. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microencephaly. Report of three siblings. Acta Neuropathol 85: 394-399.
3. Bawle EV, Kupsky WJ, D'Amato CJ, Becker CJ, Hicks S. 1995. Familial infantile olivopontocerebellar atrophy. Pediatr Neurol 13: 14-18.
4. Callen PW. 1994. Ultrasonography in Obstetrics and Gynecology, 3rd edn. Philadelphia: W.B. Saunders Company.
5. Chang Y, Twiss JL, Horoupian DS, Caldwell SA, Johnston KM. 1993. Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case. Acta Neuropathol 86: 399-404.
6. Clayton P, Winchester B, DiTomaso E, Young E, Keir G, Rodeck C. 1993. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341: 956.
7. Colan RV, Snead OC, Ceballos R. 1981. Olivopontocerebellar atrophy in children: a report of seven cases in two families. Ann Neurol 10: 355-363.
8. Gadisseux JF, Rodriquez J, Lyon G. 1984. Pontocerebellar hypoplasia - a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. Clin Neuropathol 3: 160-167.
9. Goldstein I, Reece A, Pilu G, Bovicelli L, Hobbins JC. 1987. Cerebellar measurement with ultrasonography in the evaluation of fetal growth and development. Am J Obstet Gynecol 156: 1065-1069.
10. Harding BN, Dunger DB, Grant DB, Erdohazi M. 1988. Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol, Neurosurg Psychiatr 51: 385-390.
11. Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B. 1991. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 66: 1027-1032.
12. Kristiansson B, Andersson M, Tonnby B, Hagberg B. 1989. Disialotransferrin developmental deficiency syndrome. Arch Dis Child 64: 71-76.
13. Lutz R, Bodensteiner J, Schaefer B, Gay C. 1989. X-linked olivopontocerebellar atrophy. Clin Genet 35: 417-422.
14. Nyberg DA, Mahony BS, Pretorius DH. 1990. Diagnostic Ultrasound of Fetal Anomalies. St Louis, MO: Mosby-Year Book, Inc.
15. Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC. 1988. Prenatal Diagnosis of Congenital Anomalies. Norwalk, CT: Appleton & Lange.