A Case of Adams–Oliver Syndrome

Document Type : CASE REPORT

Authors
Minoo Saeidi 1
Fahime Ehsanipoor 2
1 Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran
2 Department of Pediatrics, University of Medical Sciences, Tehran, Iran
Abstract
Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging. No other internal organ involvement was obvious in this patient. Family history was negative for this syndrome. AOS is a multisystem disorder, and so it is crucial to investigate for internal organ involvements.

Keywords

1.
Adams FH, Oliver CP. Hereditary deformities in man: Due to arrested development. J Hered 1945;36:3-7.  Back to cited text no. 1
    
2.
Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet 2003;11:457-63.  Back to cited text no. 2
[PUBMED]    
3.
Sankhyan N, Kaushal RK, Jaswal RS. Adams-Oliver syndrome: A case with complete expression. J Dermatol 2006;33:435-6.  Back to cited text no. 3
[PUBMED]    
4.
Seo JK, Kang JH, Lee HJ, Lee D, Sung HS, Hwang SW, et al. A case of Adams-Oliver syndrome. Ann Dermatol 2010;22:96-8.  Back to cited text no. 4
    
5.
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;146A: 488-91.  Back to cited text no. 5
[PUBMED]    
6.
Zapata HH, Sletten LJ, Pierpont ME. Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995;47:80-4.  Back to cited text no. 6
[PUBMED]    
7.
Kalina MA, Kalina-Faska B, Paprocka J, Jamroz E, Pyrkosz A, Marszal E, et al. Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management. Clin Genet 2010;78:227-35.  Back to cited text no. 7
    
8.
Küster W, Lenz W, Kääriäinen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): Report of ten cases and review of the literature. Am J Med Genet 1988;31:99-115.  Back to cited text no. 8
    
9.
Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Adams-Oliver syndrome: Further evidence of an autosomal recessive variant. Clin Dysmorphol 2007;16:141-9.  Back to cited text no. 9
[PUBMED]    
10.
Mempel M, Abeck D, Lange I, Strom K, Caliebe A, Beham A, et al. The wide spectrum of clinical expression in Adams-Oliver syndrome: A report of two cases. Br J Dermatol 1999;140:1157-60.  Back to cited text no. 10
[PUBMED]    
11.
Bonafede RP, Beighton P. Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet 1979;3:35-41.  Back to cited text no. 11
[PUBMED]    
12.
Rajabian MH, Aghaei S. Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings. Dermatol Online J 2006;12:17.  Back to cited text no. 12
    
13.
Amor DJ, Leventer RJ, Hayllar S, Bankier A. Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome. Am J Med Genet 2000;93:328-34.  Back to cited text no. 13
[PUBMED]    
14.
D'Amico A, Melis D, D'Arco F, Di Paolo N, Carotenuto B, D'Anna G, et al. Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. Pol J Radiol 2013;78:83-7.  Back to cited text no. 14
    
15.
Atasoy HI, Tug E, Yavuz T, Cine N. Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. Pediatr Int 2013;55:508-12.  Back to cited text no. 15
[PUBMED]    
16.
Swartz EN, Sanatani S, Sandor GG, Schreiber RA. Vascular abnormalities in Adams-Oliver syndrome: Cause or effect? Am J Med Genet 1999;82:49-52.  Back to cited text no. 16
[PUBMED]    
17.
Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, et al. Autosomal recessive type of Adams-Oliver syndrome: Prenatal diagnosis. Ultrasound Obstet Gynecol 2002;20:506-10.  Back to cited text no. 17
[PUBMED]    
18.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, et al. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet 2014;95:275-84.  Back to cited text no. 18
[PUBMED]    
19.
Sybert VP. Aplasia cutis congenita: A report of 12 new families and review of the literature. Pediatr Dermatol 1985;3:1-14.  Back to cited text no. 19
[PUBMED]    
20.
Fryns JP, Legius E, Demaerel P, van den Berghe H. Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome. Clin Genet 1996;50:505-9.  Back to cited text no. 20
[PUBMED]    
21.
Hoyme HE, Jones KL, Van Allen MI, Saunders BS, Benirschke K. Vascular pathogenesis of transverse limb reduction defects. J Pediatr 1982;101:839-43.  Back to cited text no. 21
[PUBMED]    
22.
Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE. Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am J Med Genet 1991;38:69-73.  Back to cited text no. 22
[PUBMED]    
23.
Patel MS, Taylor GP, Bharya S, Al-Sanna'a N, Adatia I, Chitayat D, et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet A 2004;129A:294-9.  Back to cited text no. 23
Advanced Biomedical Research
Volume 2017, December
December 2017
Pages 1-4