Adams-Oliver Syndrome – Follow-up of a Large Scalp Defect

Key words

Adams-Oliver Syndrome - scalp defect - congenital cutis aplasia - terminal limb defect

Schlüsselwörter

Adams-Oliver-Syndrom - Skalpdefekt - Aplasia cutis congenital - Extremitätenfehlbildung

• References

• 1 Farrell SA, Warda LJ, LaFlair P et al. Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax. Am J Med Genet 1993; 47: 1175-1179
• 2 Gridley T. Notch signaling and inherited disease syndromes. Hum Mol Genet 2003; 12 Spec No 1: R9-R13
• 3 Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012; 91: 391-395
• 4 McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008; 146 A: 488-491
• 5 Swartz EN, Sanatani S, Sandor GG et al. Vascular abnormalities in Adams-Oliver syndrome: cause or effect?. Am J Med Genet 1999; 82: 49-52
• 6 Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995; 47: 80-84