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Volumn 62, Issue 1, 1996, Pages 48-53

Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome

Author keywords

diaphragmatic hernia; limb deficiencies; ossification defects of skull

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL DIAPHRAGM HERNIA; FAMILY HISTORY; FEMALE; FETUS; FETUS ECHOGRAPHY; HUMAN; INTESTINE MALROTATION; LIMB DEFECT; LUNG HYPOPLASIA; MALE; OMPHALOCELE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKULL MALFORMATION; SYNDACTYLY;

EID: 0029926335     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960301)62:1<48::AID-AJMG10>3.0.CO;2-V     Document Type: Article
Times cited : (9)

References (13)
  • 2
    • 0017065801 scopus 로고
    • Diaphragmatic hernia in the southwest of England
    • David TJ, Illingworth CA (1976): Diaphragmatic hernia in the southwest of England. J Med Genet 13:253-262.
    • (1976) J Med Genet , vol.13 , pp. 253-262
    • David, T.J.1    Illingworth, C.A.2
  • 3
    • 2842544344 scopus 로고
    • A population based study of amelia: Occurrence, distribution and associated anomalies
    • Froster-Iskenius UG, Baird PA (1990): A population based study of amelia: Occurrence, distribution and associated anomalies. Proc Greenwood Genet Cent 9:86-87.
    • (1990) Proc Greenwood Genet Cent , vol.9 , pp. 86-87
    • Froster-Iskenius, U.G.1    Baird, P.A.2
  • 4
    • 0018305302 scopus 로고
    • A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
    • Fryns JP, Moerman F, Goddeeris P (1979): A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50:65-70.
    • (1979) Hum Genet , vol.50 , pp. 65-70
    • Fryns, J.P.1    Moerman, F.2    Goddeeris, P.3
  • 5
    • 0025280304 scopus 로고
    • Unknown syndrome: Radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst
    • Gershoni-Baruch R, Machoul I, Weiss Y, Blazer S (1990): Unknown syndrome: Radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. J Med Genet 27:403-404.
    • (1990) J Med Genet , vol.27 , pp. 403-404
    • Gershoni-Baruch, R.1    Machoul, I.2    Weiss, Y.3    Blazer, S.4
  • 6
    • 2842569943 scopus 로고
    • Unilateral tibial and ulnar hand deficiencies, cardiac malformations, and diaphragmatic hernia
    • Holzgreve W, Hufnagel G, Golbus M (1984): Unilateral tibial and ulnar hand deficiencies, cardiac malformations, and diaphragmatic hernia. J Clin Dysmorphol 2:13-15.
    • (1984) J Clin Dysmorphol , vol.2 , pp. 13-15
    • Holzgreve, W.1    Hufnagel, G.2    Golbus, M.3
  • 8
    • 0017885889 scopus 로고
    • Congenital diaphragmatic hernia associated with homolateral upper limb malformation: A study of possible pathogenesis in four cases
    • McCredie J, Reid IS (1978): Congenital diaphragmatic hernia associated with homolateral upper limb malformation: A study of possible pathogenesis in four cases. J Pediatr 92:762-765.
    • (1978) J Pediatr , vol.92 , pp. 762-765
    • McCredie, J.1    Reid, I.S.2
  • 9
    • 0003847689 scopus 로고
    • Moore KL (ed) Philadelphia: W.B. Saunders Company
    • Moore KL (ed) (1982): "The Developing Human." 3rd ed. Philadelphia: W.B. Saunders Company.
    • (1982) "The Developing Human." 3rd Ed.
  • 10
    • 0025218134 scopus 로고
    • Phocomelia and additional anomalies in two sisters
    • Schinzel A (1990): Phocomelia and additional anomalies in two sisters. Hum Genet 84:539-541.
    • (1990) Hum Genet , vol.84 , pp. 539-541
    • Schinzel, A.1
  • 11
    • 0026542578 scopus 로고
    • Genomics of human dysmorphogenesis
    • Wilson GN (1992): Genomics of human dysmorphogenesis. Am J Med Genet 42:187-196.
    • (1992) Am J Med Genet , vol.42 , pp. 187-196
    • Wilson, G.N.1
  • 12
    • 84958699162 scopus 로고
    • An analysis of the syndrome of malformations induced by vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation
    • Wilson JG, Roth CB, Warkany J (1953): An analysis of the syndrome of malformations induced by vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation. Am J Anat 92:189-217.
    • (1953) Am J Anat , vol.92 , pp. 189-217
    • Wilson, J.G.1    Roth, C.B.2    Warkany, J.3
  • 13
    • 2842585422 scopus 로고
    • Diagnose intrauteriner fetaler Erkrankungen
    • Wisser J (1992): Diagnose intrauteriner fetaler Erkrankungen. Med Welt 43:124-127.
    • (1992) Med Welt , vol.43 , pp. 124-127
    • Wisser, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.