DOI: https://doi.org/10.14710/jbtr.v4i2.3578

A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM)

Faculty of Medicine, Diponegoro University, Indonesia

Received: 8 Nov 2018; Published: 31 Dec 2018.
Open Access Copyright (c) 2018 Journal of Biomedicine and Translational Research

Citation Format:
Abstract

Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case of trisomy 18 with atypical features of split-hand/split-foot malformation (SHFM).

Case Presentation: A four-months-old baby was brought to hospital with dyspnea and history of multiple congenital anomalies (MCA). Abnormalities found including brachycephaly, facial dysmorphisms, split hands and split feet. Other anomalies were atrial and ventricular septal defects, umbilical hernia, and right lung atelectasis. Based on physical examination and additional workups, SHFM was suspected. Genome-wide array analysis revealed gain on entire chromosome 18. Only few cases of trisomy 18 with SHFM have been reported, with split feet as the most findings. 

Conclusion: This case represents SHFM as a unique limb involvement in patient with trisomy 18, a valuable finding to be taken into account in trisomy 18 features. Careful examination and diagnosis as well as subsequent genetic counseling are granted, and routine cytogenetic analysis is vital as a first-tier diagnostic workup on patient with MCA.

Fulltext View|Download
Keywords: trisomy 18 syndrome; split-hand-foot malformation; ectrodactyly; genetic testing; molecular genetics

Article Metrics:

Article Info
Section: Case Reports
Language : EN
Recent articles
Factors Affecting Parents' Acceptance towards Children with Familial Intellectual Disability (ID) The Effects of Zinc Supplementation on Immune Response of Obese Children With Family History of Atopy Malaria, hepatitis B and HIV /AIDS, and their co-infection among Patients Visiting Health Centres in Akure, Nigeria A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM) Marfan Syndrome, A Review More recent articles
  1. Houlihan OA, O’Donoghue K. The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series. BMC Pregnancy Childbirth. 2013;13(1):209
  2. Guo Q, Wang H, Yang K, Zhang B, Li T, Liao S. [Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21]. Chinese J Med Genet. 2015;32(3):395–9
  3. Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7:81
  4. Roberts W, Zurada A, Zielinska AZ, Gielecki J, Loukas M. Anatomy of Trisomy 18. Clin Anat. 2016;29:628–32
  5. Castle D, Bernstein R. Trisomy 18 syndrome with cleft foot. J Med Genet. 1987;568–70
  6. Rogers C. Trisomy 18 With Unilateral Atypical Ectrodactyly. Am J Med Genet. 1994;49:125–6
  7. Becerra M, Moya F, Lacassie Y, Stopa A, Craver R. Clinico-pathological conference: A preterm infant with multiple congenital anomalies. Am J Med Genet. 1992;44(4):503–7
  8. Butler LJ, Snodgrass GJAI, France NE, Sinclair L, Russell A. E (16-18) trisomy syndrome: analysis of 13 cases. Arch Dis Child. 1965;40:600–11
  9. Kislal FM, Altuntas N, Ozdemir O, Ceylaner S, Kislal MH, Andiran N. Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association. J Coll Physicians Surg Pak. 2015;25(8):619–20
  10. Sowińska-Seidler A, Socha M, Jamsheer A. Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet. 2014;55(1):105–15
  11. Yang X, Lin X, Zhu Y, Luo J, Lin G. Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree. Mol Med Rep. 2018;17(6):7553–8
  12. Duijf PHG, Bokhoven H Van, Brunner HG. Pathogenesis of split-hand / split-foot malformation. Hum Mol Genet. 2003;12(1):51–60
  13. McMahon CJ, Feltes TF, Fraley JK, Bricker JT, Grifka RG, Tortoriello TA, et al. Natural history of growth of secundum atrial septal defects and implications for transcatheter closure. Heart. 2002;87(3):256–9
  14. Rosa RFM, Rosa RCM, Lorenzen MB, Zen PRG, Oliveira CAV de, Graziadio C, et al. Limb abnormalities on trisomy 18: evidence for early diagnosis. J Pediatr (Rio J);88(5):401–5
  15. Rosa RFM, Rosa RCM, Zen PRG, Graziadio C, Paskulin GA. Trisomy 18 : review of the clinical , etiologic , prognostic , and ethical aspects. Rev Paul Pediatr. 2013;31(1):111–20
  16. Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, et al. Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet Part A. 2016;170(4):825–37
  17. Elliott A, Evans J, Chudley A. Split Hand Foot Malformation (SHFM). Clin Genet. 2005;68(6):501–5
  18. Blattner A, Huber AR, Röthlisberger B. Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. Am J Med Genet Part A. 2010;152A(8):2053–6

Last update:

No citation recorded.

Last update:

No citation recorded.