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Volumn 108, Issue 1, 2002, Pages 41-44

Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: Further evidence for autosomal recessive inheritance of hydranencephaly, Fowler type

(5) Steiner, Robert D a Dignan, Peter St J b Hopkin, Robert J b Kozielski, Rafal b Bove, Kevin E b

a OREGON HEALTH AND SCIENCE UNIVERSITY (United States)

b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER (United States)

Author keywords

Arthrogryposis; Autosomal recessive inheritance; Fetal akinesia deformation sequence; Hydranencephaly Fowler type

Indexed keywords

AKINESIA; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FETAL AKINESIA DEFORMATION SEQUENCE; FETUS; FETUS ECHOGRAPHY; HUMAN; HYDRANENCEPHALY; PRIORITY JOURNAL;

ARTHROGRYPOSIS; BASAL GANGLIA DISEASES; BRAIN STEM; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; FEMALE; FETAL DISEASES; FETUS; GENES, RECESSIVE; HUMANS; HYDRANENCEPHALY; NUCLEAR FAMILY; SYNDROME;

EID: 0037082978 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10208 Document Type: Article

Times cited : (29)

References (21)

1
- 0021136244
- Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
- (1984) Am J Med Genet , vol.17 , pp. 809-826
- Chen, H.¹ Immken, L.² Lachman, R.³ Yang, S.⁴ Rimoin, D.L.⁵ Rightmire, D.⁶ Eteson, D.⁷ Stewart, F.⁸ Beemer, F.A.⁹ Opitz, J.M.¹⁰

2
- 0029650311
- Lethal multiple pterygium syndrome: Importance of fetal physical examination
- (1995) Am J Med Genet , vol.57 , pp. 119-120
- Clementi, M.¹ Notari, L.² Tenconi, R.³

3
- 0023873524
- Fetal akinesia deformation sequence in previable fetuses
- (1988) Am J Med Genet , vol.29 , pp. 77-87
- Davis, J.E.¹ Kalousek, D.K.²

4
- 0015325063
- Congenital hydrocephalus-hydranencephaly in five siblings, with autopsy studies: A new disease
- (1972) Dev Med Child Neurol , vol.14 , pp. 173-188
- Fowler, M.¹ Dow, R.² White, T.A.³ Greer, C.H.⁴

5
- 0031030123
- Lethal multiple pterygium syndrome: Suggestion for a consistent pathological workup and review of reported cases
- (1997) Am J Med Genet , vol.68 , pp. 82-85
- Froster, U.G.¹ Stallmach, T.² Wisser, J.³ Hebisch, G.⁴ Robbiani, M.B.⁵ Huch, R.⁶ Huch, A.⁷

6
- 0026029488
- Fragile collagen and the lethal multiple pterygium syndrome: Does heat stress play a role?
- (1991) Am J Med Genet , vol.38 , pp. 630-633
- Gericke, G.S.¹

7
- 0021215214
- The lethal multiple pterygium syndromes
- (1984) Am J Med Genet , vol.17 , pp. 803-807
- Hall, J.G.¹

8
- 0028960804
- The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: Immunocytochemical and ultrastructural evidence for endothelial proliferation
- (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 61-67
- Harding, B.N.¹ Ramani, P.² Thurley, P.³

9
- 0020534980
- Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: A neuropathological study of two siblings
- (1983) Dev Med Child Neurol , vol.25 , pp. 232-239
- Harper, C.¹ Hockey, A.²

10
- 0024347098
- Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia
- (1989) Am J Med Genet , vol.33 , pp. 537-541
- Hartwig, N.G.¹ Vermeij-Keers, C.² Bruijn, J.A.³ Van Groningen, K.⁴ Ottervanger, H.P.⁵ Holm, J.P.⁶

11
- 0023778059
- The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: A heritable cause of recurrent abortion
- (1988) Am J Obstet Gynecol , vol.159 , pp. 474-476
- Lockwood, C.¹ Irons, M.² Troiani, J.³ Kawada, C.⁴ Chaudhury, A.⁵ Cetrulo, C.⁶

12
- 0022518343
- Lethal multiple pterygium syndrome: Three consecutive cases in one family
- (1986) Am J Med Genet , vol.24 , pp. 295-304
- Martin, N.J.¹ Hill, J.B.² Cooper, D.H.³ O'Brien, G.D.⁴ Masel, J.P.⁵

13
- 0022490430
- Lethal multiple pterygium syndrome: Report of a new case with hydranencephaly
- (1986) Am J Med Genet , vol.25 , pp. 575-579
- Mbakop, A.¹ Cox, J.N.² Stormann, C.³ Delozier-Blanchet, C.D.⁴

14
- 0025049703
- The fetal akinesia deformation sequence. A fetopathological approach
- (1990) Genet Couns , vol.1 , pp. 25-33
- Moerman, P.¹ Fryns, J.P.²

15
- 0025099047
- Pathogenesis of the lethal multiple pterygium syndrome
- (1990) Am J Med Genet , vol.35 , pp. 415-421
- Moerman, P.¹ Fryns, J.P.² Cornelis, A.³ Bergmans, G.⁴ Vandenberghe, K.⁵ Lauweryns, J.M.⁶

16
- 0024363871
- Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia
- (1988) Pediatr Neurosci , vol.14 , pp. 301-306
- Norman, M.G.¹ McGillivray, B.²

17
- 0031719585
- Prenatal diagnosis of lethal multiple pterygium syndrome in mid-pregnancy
- (1998) Ultrasound Obstet Gynecol , vol.12 , pp. 218-219
- Sciarrone, A.¹ Verdiglione, P.² Botta, G.³ Franceschini, P.⁴ Todros, T.⁵

18
- 0032146382
- UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation
- Fetal Medicine Foundation First Trimester Screening Group
- (1998) Lancet , vol.352 , pp. 343-346
- Snijders, R.J.¹ Noble, P.² Sebire, N.³ Souka, A.⁴ Nicolaides, K.H.⁵

19
- 0027183038
- Lethal multiple pterygium syndrome: Report of a case with neurological anomalies
- (1993) Am J Med Genet , vol.47 , pp. 45-49
- Spearritt, D.J.¹ Tannenberg, A.E.² Payton, D.J.³

20
- 84897360470
- Stanford, Connecticut: Appleton and Lange
- (1996) Ultrasonography of the prenatal and neonatal brain , pp. 204
- Timor Tritsch, I.¹ Monteagudodo, A.² Cohen, H.³

21
- 0003328343
- Hypoxic-ischemic encephalopathy, neuropathology and pathogenesis
- Philadelphia: W.B. Saunders
- (1995) Neurology of the newborn: Neuronal proliferation, migration, organizaton and myelination , pp. 299-307
- Volpe, J.J.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.