Osteogenesis imperfecta: forensic assessment of traumatic injuries. Case report and literature review

Hostiuc, Sorin; Cristian, George

doi:10.4323/rjlm.2008.245

Cited by 6 publications

(6 citation statements)

References 28 publications

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“…An important issue when aortic dissection is found at the autopsy is the genetic screening, especially in young persons with Erdheim lesions (cystic medionecrosis) were there are no other significant associated comorbidities (atherosclerosis, trauma, etc) [7,25,26]. Usually when a genetic predisposition exists, aortic dissection is associated with various genetic syndromes (Marfan -FBN-1 or TGFbR2 mutations [27], Ehlers-Danlos IV -COL3A1 [28], Turner -45XO [29][30][31], Noonan -PTPN11, KRAS, SOS1, RAF1 [30,31], osteogenesis imperfecta -CO1A1,COL1A2 [32], homocystinuria -CBS [31], AD-PKD -PKD1, PKD2 [31], pseudoxanthoma elasticum, Hurler syndrome, Loeys-Dietz syndrome [31], etc) with manifest phenotypes. Very unfrequently aortic dissection predisposition is determined by genes that aren't responsible for other clinical manifestation.…”

Section: Discussionmentioning

confidence: 99%

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Spontaneous aortic dissection and cystic medial degeneration. Report of a sudden death case and literature review

Dermengiu¹,

Ceauşu²,

Hostiuc³

et al. 2009

Rom J Leg Med

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A 32 years old woman collapsed during work, after complaining for several minutes of intense diffuse abdominal pains. An emergency team arrived on the spot succeded in reconverting a ventricular fibrillation and rushed the patient to an Emergency unit. Upon admission the patient was in shock (pulse 110/min, blood pressure 60/40 mmHg), extremely anxious, and continued to complain of intense epigastrial pains. A plain X ray and abdominal echography were irrelevant. Although the ECG suggested an acute myocardial infarction, the enzymatic markers of acute myocardial ischemia were uncharacteristic. The patient died 2 hours after admission, with the presumed diagnostic: "Acute myocardial infarction TOPOL I, possibly with spontaneous reperfusion. Cardiac arrest on ventilatory support". The autopsy revealed an almost circumferential aortic dissection initiated at the ostia of the left coronary artery, extending down to right common iliac artery. Microscopic examination revealed a myxoid degeneration between the disrupted elastic lamellae of the aortic media. The paper reviews the incidence of aortic spontaneous dissection, the pathogeny and associated genetic anomalies of aortic media degeneration.

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Section: Discussionmentioning

confidence: 99%

“…The genes responsible for non-Syndromic aortic aneurysm and dissection are TAAD1 [33], FAA1 [34], TAAD2 [35], MYH11 [36]; other possible candidates are FBLN2, TIMP4, MMP3, COL1A1, COL1A2 [31,32]; if they are detected in a patient with aortic dissection genetic counseling must be given to their families.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous aortic dissection and cystic medial degeneration. Report of a sudden death case and literature review

Dermengiu¹,

Ceauşu²,

Hostiuc³

et al. 2009

Rom J Leg Med

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“…The first being whether this child presenting with an unexplained fracture is a victim of battered child syndrome or not since fractures in various parts of the skeletal system are one of the most frequent manifestations of this syndrome after skin injuries. Differentiating these two conditions, although sometimes challenging, is very crucial, and misdiagnosing one for another can have a psychological, social, and medical impact on the patients and families and further judicial complications [ 25 - 26 ].…”

Section: Reviewmentioning

confidence: 99%

“…Second, healing time: although in osteogenesis imperfecta, the healing time is not significantly different from normal people, prolonged immobilization following a fracture is of clinical necessity since the complication rate is higher than in normal people. And finally, complication rate: patients with osteogenesis imperfecta have higher rates of developing joint stiffness and early arthritic changes, which results in a significantly higher incidence of pain [ 25 ].…”

Section: Reviewmentioning

confidence: 99%

Osteogenesis Imperfecta and Child Abuse From a Forensic Point of View

Altalib¹,

Althomali²,

Alshahrani³

et al. 2021

Cureus

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Osteogenesis imperfecta (OI) also called brittle bone disease is a rare genetic disorder that results from a defect in type 1 collagen, which is a main structural protein involved in the structure of bones, tendons, ligaments, the dentin layer of teeth, and the sclera of the eye. The defect in this gene is known to be a predisposing factor to fractures. The deficiency in type 1 collagen can be either qualitative or quantitative. Due to this deficiency, the bones become so fragile and can break easily with minimal trauma, which can be coined as “imperfect bone formation.” It also leads to bruises due to the extravasation of blood in the connective tissue of the skin. Sometimes, fractures may result from the routine handling of parents. It can be misleading since fractures are considered to be the second most common sign of child abuse according to the literature. One of the main duties in forensic medicine is examining live victims, which plays a crucial role in confirming a clinical diagnosis. In this paper, a review of the literature was conducted and a summary of reported cases of osteogenesis imperfecta, which were initially diagnosed as child abuse, is presented. The aim of this study was to review the literature for the prevalence of misdiagnosed cases of osteogenesis imperfecta as child abuse, analyzing various types of presentations in osteogenesis imperfecta that might lead a physician to a wrong diagnosis of child abuse and to clarify common findings and fracture sites seen among patients with osteogenesis imperfecta. The literature review was conducted for both conditions, osteogenesis imperfecta and child abuse, and an evaluation and analysis of case reports and case series regarding osteogenesis imperfecta cases misdiagnosed as child abuse utilizing the PubMed search engine. Unexplained fractures in children validate the consideration of osteogenesis imperfecta and child physical abuse. A thorough and careful evaluation is recommended as soon as possible because a delay can result in psychological consequences for both the child and the family.

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“…In Romania our previous studies revealed that the most often find accusations are ommisive (usually associated with surgical specialties) and commisive (in both surgical and medical specialties) [10][11][12][13]. Another classification divides medical errors according to their type in dolosive (molest, insult, defamation, outrage), by negligence, superficiality, against medical humanity, against common caution, ignorance, incompetence, refusal to treat, refusal to answer to a request to treat, patient abandon, etc.…”

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confidence: 99%

Malpractice claims associated with infectious causes

Vasalos¹,

Salem²,

Hostiuc³

2010

RJLM

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Medical errors leading to malpractice claims have had a continuously increasing frequency in the last years in Romania. In this study we try to analyze the characteristics of malpractice claims associated with infectious pathology. Material and method. A study was conducted on 83 cases with malpractice claims, on a four year period. Thirty cases included in the causal chain an infective process (MOSF as a terminal event was excluded). Results. Cases with associated infectious pathology had a lower mean age, a male predominance, an increased severity and mortality. Its presence however wasn't associated with a significant increase in medical errors frequency. Conclusions. Infectious processes, even if are associated with an increased severity and mortality, don't have a stronger association with the positive identification of medical errors compared with medical treatments not associated with infectious pathology during their course.

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Osteogenesis imperfecta: forensic assessment of traumatic injuries. Case report and literature review

Cited by 6 publications

References 28 publications

Spontaneous aortic dissection and cystic medial degeneration. Report of a sudden death case and literature review

Spontaneous aortic dissection and cystic medial degeneration. Report of a sudden death case and literature review

Osteogenesis Imperfecta and Child Abuse From a Forensic Point of View

Malpractice claims associated with infectious causes

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