Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature
Abstract
The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations.
Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up.
In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.
Downloads
References
Piazza AJ, Blackston D, Sola A. A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology? Am J Med Genet A. 2004;130A:172-5. https://doi.org/10.1002/ajmg.a.30210
Lehman A, Wuyts W, Patel MS. Adams-Oliver syndrome. In: Adam MP, Everman MB, Mirzaa GM, Pagon RA, Wallace SE, Bean L, et al, editors. Gene Reviews. Seattle (WA): University of Washington; 1993.
Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, et al. Adams-Oliver syndrome caused by mutations of the EOGT gene. Am J Med Genet A. 2019;179:2246-51. https://doi.org/10.1002/ajmg.a.61313
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, et al. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat. 2015;36:593-8. https://doi.org/10.1002/humu.22795
Southgate L, Sukalo M, Karountzos AS, Taylor EJ, Collinson CS, Ruddy D, et al. Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies. Circ Cardiovasc Genet. 2015;8:572-81. https://doi.org/10.1161/CIRCGENETICS.115.001086
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, et al. Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome. Am J Hum Genet. 2015;97:475-82. https://doi.org/10.1016/j.ajhg.2015.07.015
Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012;91:391-5. https://doi.org/10.1016/j.ajhg.2012.07.005
Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011;89:328-33. https://doi.org/10.1016/j.ajhg.2011.07.009
Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013;92:598-604. https://doi.org/10.1016/j.ajhg.2013.02.012
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, et al. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Hum Mutat. 2018;39:1246-61. https://doi.org/10.1002/humu.23567
Kojmane W, Hmami F, Atmani S. Syndrome d’Adams-Oliver et cutis marmorata telangiectatica congenita [Adams-Oliver syndrome and cutis marmorata telangiectatica congenita]. Ann Dermatol Venereol. 2019;146:223-5. https://doi.org/10.1016/j.annder.2018.11.009
Meyer BI, Williams PJ, Hanif AM, Lenhart PD, Hubbard GB 3rd, Jain N. Proliferative retinopathy in a 13-year-old with Adams-Oliver syndrome. Retin Cases Brief Rep. 2020. https://doi.org/10.1097/ICB.0000000000001073
Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A. 2017;173:790-800. https://doi.org/10.1002/ajmg.a.37889
Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, et al. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. Am J Med Genet A. 2020;182:29-37. https://doi.org/10.1002/ajmg.a.61364
Algaze C, Esplin ED, Lowenthal A, Hudgins L, Tacy TA, Selamet-Tierney ES. Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. Am J Med Genet A. 2013;161A:1386-9. https://doi.org/10.1002/ajmg.a.35864
O’Neill M. Adams-Oliver Syndrome 5; AOS5. Adams-Oliver syndrome 5; AOS5. Fecha de consulta: 28 de julio del 2022. Disponible en: https://www.omim.org/entry/616028?search=SINDROME%20DE%20ADAMS%20OLIVER&highlight=adam%20de%20oliver%20sindrome
Hoyme HE, Jones KL, van Allen MI, Saunders BS, Benirschke K. Vascular pathogenesis of transverse limb reduction defects. J Pediatr. 1982;101:839-43. https://doi.org/10.1016/s0022-3476(82)80343-0
Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? Am J Med Genet. 1988;29:269-76. https://doi.org/10.1002/ajmg.1320290204
Chitayat D, Meunier C, Hodgkinson KA, Robb L, Azouz M. Acrania: A manifestation of the Adams-Oliver syndrome. Am J Med Genet. 1992;44:562-6. https://doi.org/10.1002/ajmg.1320440506
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. https://doi.org/10.1111/j.1399-0004.1996.tb02723.x
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. https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<49:aid-ajmg10>3.0.co;2-m
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. https://doi.org/10.1002/ajmg.a.30221
Mendoza-Soto A, Galletti L, Gómez de Quero P, Ramos-Casado MV, Velasco-Bayón JM. Bronquitis plástica. A propósito de un caso y revisión de los casos asociados a cirugía de Fontan. An Pediatr (Barc). 2005;62:72-5. https://doi.org/10.1157/13070185
Saeidi M, Ehsanipoor F. A case of Adams-Oliver syndrome. Adv Biomed Res. 2017;6:167. https://doi.org/10.4103/2277-9175.221861
Kasinathan A, Sharawat IK, Das G, Sankhyan N. Adams-Oliver syndrome: Limited expression. Indian J Pediatr. 2019;86:101-2. https://doi.org/10.1007/s12098-018-2720-2
Some similar items:
- Ana María Navarro , Gabriela Mantilla, Jorge Andrés Fernández , Mario Fernando Unigarro, Alfonso Suárez , María Claudia Ortega , Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency , Biomedica: Vol. 44 No. Sp. 2 (2024): Inmunología clínica
- Yiby Forero, Gina E. Morales, Edgar Benítez, Comparison of two methodologies used for determining metabolic syndrome in adult population , Biomedica: Vol. 33 No. 2 (2013)
- Carolina Guerra, Carlos Santiago Uribe, Alejandro Guerra, Olga H. Hernández, Bickerstaff brain encephalitis: case report and review , Biomedica: Vol. 33 No. 4 (2013)
Copyright (c) 2022 Biomedica
This work is licensed under a Creative Commons Attribution 4.0 International License.
| Article metrics | |
|---|---|
| Abstract views | |
| Galley vies | |
| PDF Views | |
| HTML views | |
| Other views | |
