Cerebral cortical dysplasia and digital constriction rings in Adams- Oliver syndrome

American Journal of Medical Genetics

Volumn 86, Issue 1, 1999, Pages 15-19

  Savarirayan, Ravi ^a   Thompson, Elizabeth M ^b   Abbott, Kimball J ^b   Moore, Mark H ^b  

^a Victorian Clinical Genetics Service   (Australia)

^b North Adelaide SA   (United States)

Author keywords

Adams Oliver syndrome; Constriction ring; Cortical dysplasia

Indexed keywords

ADAMS OLIVER SYNDROME; ARTICLE; BRAIN CORTEX; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DYSPLASIA; ECHOGRAPHY; FINGER MALFORMATION; HUMAN; MALE; PRIORITY JOURNAL; SKULL RADIOGRAPHY;

CEREBRAL CORTEX; CHILD, PRESCHOOL; CONSTRICTION, PATHOLOGIC; FEMALE; FINGERS; GENES, DOMINANT; HUMANS; INFANT; MALE; NAILS, MALFORMED; NUCLEAR FAMILY; PENETRANCE; SCALP; SYNDROME; TOES;

EID: 0032791831     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990903)86:1<15::AID-AJMG4>3.0.CO;2-I     Document Type: Article

References (15)

1. Adams FH, Oliver CP. 1945. Hereditary deformities in man due to arrested development. J Hered 36:3-7.
2. Bamforth JS, Kaurah P, Byrne J, Ferreira P. 1994. Adams-Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet 49:393-396.
3. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E. 1996. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12:94-96.
4. Chitayat D, Meunier C, Hodgkinson KA, Robb L, Azouz M. 1992. Acrania: a manifestation of Adams-Oliver syndrome. Am J Med Genet 44:562-566.
5. Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE. 1991. Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am J Med Genet 38:69-73.
6. Donnai D, Winter RM. 1989. Disorganization: a model for "early amnion rupture"? J Med Genet 26:421-425.
7. Fryns JP, Legius E, Demaerel P, van den Berghe H. 1996. Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Clin Genet 50:505-509.
8. Kahn EA, Olmedo L. 1950. Congenital defect of the scalp, with a note on the closure of the scalp defect. Plast Reconstr Surg 6:435-440.
9. Koiffmann CP, Wajntal A, Huyke BJ, Castro RM, 1988. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 29:263-268.
10. Küster W, Lenz W, Kääriäinen H, Majewski F. 1988. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of 10 cases and review of the literature. Am J Med Genet 31:99-115.
11. Landrieu P, Lacroix C. 1994. Schizencephaly, consequence of a developmental vasculopathy? A clinicopathological report. Clin Neuropath 13: 192-196.
12. Scribanu N, Temtamy SA. 1975. The syndrome of aplasia cutis congenita with terminal, transverse defects of the limbs. J Pediatr 87:79-82.
13. Sybert VP. 1985. Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol 3:1-14.
14. Whitley CB, Gorlin RJ. 1991. Adams-Oliver syndrome revisited. Am J Med Genet 40:319-326.
15. Zapata HH, Sletten LJ, Pierpont MEM. 1995. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 47:80-84.