A Thirteen-Year-Old Girl with Cornelia de Lange Syndrome – The First Case Described in Litigation

Authors

  • Hrvoje Lalić Department of Occupational Medicine, Health Centre Rijeka, Medical School, University of Rijeka, Brentinijeva 5, 51000 Rijeka, Croatia

DOI:

https://doi.org/10.3889/oamjms.2020.4702

Keywords:

Cornelia de Lange syndrome, Expert witness, Financial claim, Litigation, Occupational medicine

Abstract

AIM: The aim of this paper is to accentuate importance of the expert witness role, occupational medicine specialist, in litigation. The OM specialist proved his importance in broad spectrum of administrative court proceedings, assessment of working capacity, and different type of claims.

CASE REPORT: Here is presented a case of a 13-year-old girl suffering Cornelia de Langue syndrome. The occupational medicine specialist concludes that the girl’s claim toward the Ministry of Demography, Family and Social Affairs is legitimate. Expert witness representing the above ministry came to conclusion that the patient is not heavily disabled due to her mobility and regular school attendance. Due to hearing aid her hearing is satisfactory and she is capable of dressing and feeding herself. In 2012, the girl was diagnosed with Langer-Giedion syndrome 8q23.3-q24.13 deletions and due to the development of molecular diagnosis only in 2015 RAD 21 gene deletion was discovered and she was correctly diagnosed. On examination, occupational medicine specialist found the patient suffering heavy deformations of locomotor system, small hands and feet, genua valga, and flat feet. The hearing is severely impaired in right and moderately in her left ear. Her mother states that she stopped soiling bed at the age of 8 and at present when going to toilette during night she becomes disoriented, sleeps badly, and screams. In the morning, she is not capable of preparing her own food. The patient needs to be examined by endocrinologist, her body is covered in exostoses and she heavily depends on other people.

CONCLUSION: The patient is heavily disabled and in need of help for essential functioning at least until completion of secondary education.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Plum Analytics Artifact Widget Block

References

Sarogni P, Pallotta MM, Musio A. Cornelia de Lange syndrome: From molecular diagnosis to therapeutic approach. J Med Genet. 2019;57(5):289-95. https://doi.org/10.1136/ jmedgenet-2019-106277 PMid:31704779

Pawliuk C, Widger K, Dewan T, Brander G, Brown HL, Hermansen AM, et al. Scoping review of symptoms in children with rare, progressive, life-threatening disorders. BMJ Support Palliat Care. 2019;10(1):91-104. https://doi.org/10.1136/bmjspcare-2019-001943 PMid:31831511

Bergeron M, Chang K, Ishman SL. Cornelia de Lange manifestations in otolaryngology: A systematic review and meta-analysis. Laryngoscope. 2019;130(4):E122-33. https://doi.org/10.1002/lary.28169 PMid:31301187

Psillas G, Triaridis S, Chatzigiannkidou V, Constantinidis J. Cornelia de Lange syndrome and cochlear implantation. Iran J Otorhinolaryngol. 2018;30(101):369-73. PMid:30560105

Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, et al. Third case of 8q23.3-q24.13 deletion in patient with Langer- Giedieon syndrome phenotype without TRPS1 gene deletion. Am J Genet A. 2012;158A(3):659-63. https://doi.org/10.1002/ajmg.a.35201

Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, et al. Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: Comments on the article by Pereza et al (2012). Am J Med Genet A. 2015;167(6):1426-7. https://doi.org/10.1002/ajmg.a.36974 PMid:25899858

People´s Gazette 2002, No 64, Severity of health damage, Article 38, Sect 2. Book of rules about the structure and mode of work of experts in proceeding of rights substantiation of social care and other rights under the special rules. 2002.

People`s Gazette 2014, No 153, List of invalidity, Inset 3. Regulations of the methodology of the expertise 2014.

Crawford H, Moss J, Groves L, Dowlen R, Nelson L, Reid D, et al. A behavioural assessment of social anxiety and social motivation in fragile X, Cornelia de Lange and rubinstein-taybi syndromes. J Autism Dev Disord. 2019;50(1):127-44. https://doi.org/10.1007/s10803-019-04232-5 PMid:31541420

Lalić H. Expert assessment of war casualties. Med Sci Law. 2017;57(1):47-51.

Downloads

Published

2020-08-18

How to Cite

1.
Lalić H. A Thirteen-Year-Old Girl with Cornelia de Lange Syndrome – The First Case Described in Litigation. Open Access Maced J Med Sci [Internet]. 2020 Aug. 18 [cited 2021 Dec. 4];8(C):188-90. Available from: https://oamjms.eu/index.php/mjms/article/view/4702

Issue

Section

Case Report in Internal Medicine

Categories