Genetic aspects of fibrodysplasia ossificans progressiva.

Connor, J. M.; Da, Evans

doi:10.1136/jmg.19.1.35

Cited by 113 publications

(52 citation statements)

References 12 publications

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“…FOP is a rare condition, occurring at a population frequency of about 1 per 2 million [3,4]. Most cases of FOP are sporadic, with a single affected person in a family.…”

Section: Fop -Overviewmentioning

confidence: 99%

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Shore

Kaplan

2008

Bone

113

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Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder of extensive and debilitating extra-skeletal bone formation. While the challenges of investigating a rare condition are many, the potential benefits are also great -not only for the specific disease under investigation, but also for the unique perspective on how cells normally function and the mechanisms that underlie more common disorders. This review will illustrate some of the many insights that we have gained by studying FOP.

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“…FOP is a rare condition, occurring at a population frequency of about 1 per 2 million [3,4]. Most cases of FOP are sporadic, with a single affected person in a family.…”

Section: Fop -Overviewmentioning

confidence: 99%

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Shore

Kaplan

2008

Bone

113

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“…Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder with autosomal dominant inheritance 3,4 and a point prevalence of ϳ1 case per 2 million population worldwide. 5 Almost all individuals with FOP have congenital malformations of the great toes that are recognizable at birth, consisting of a hypoplastic proximal phalanx with associated hallux valgus 6 (Fig 1A).…”

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confidence: 99%

Iatrogenic Harm Caused by Diagnostic Errors in Fibrodysplasia Ossificans Progressiva

et al. 2005

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ABSTRACT. Background. Little is known about diagnostic errors for a disease worldwide. Such errors could alter the disease's natural history, especially if unwarranted interventions cause irreversible harm. Fibrodysplasia ossificans progressiva (FOP), a rare, autosomal dominant genetic disease characterized by episodes of permanent heterotopic ossification of soft tissues, occurs worldwide without racial, ethnic, or geographic predilection. There is no effective treatment, and soft-tissue trauma (eg, biopsies, surgical procedures, intramuscular injections, or mandibular blocks for dental procedures) and viral illnesses are likely to induce episodes of rapidly progressive heterotopic ossification, with resultant permanent loss of motion in the affected area. Accurate diagnoses can be made on the basis of the clinical findings of tumor-like swellings on the head, neck, back, or shoulders and characteristic short great toes with hallux valgus-like malformations and missing interphalangeal joints. On the basis of conversations with numerous individuals with FOP, we suspected that diagnostic errors with FOP are common and often associated with inappropriate and harmful diagnostic and therapeutic procedures.Objective. To document the frequency of diagnostic errors with FOP and complications resulting from misdiagnoses.Design. A questionnaire requesting detailed demographic, diagnostic, and treatment information was sent to all 269 patient-members of the International FOP Association; the sampling frame included >90% of all known FOP patients worldwide. We received 138 replies (51% response) from 25 countries. The age range was 2 to 71 years; there were 78 female subjects and 60 male subjects. In addition, to assess the availability and adequacy of information about FOP, we reviewed 184 English-language textbooks in relevant specialties published in the past 20 years.Results. Incorrect diagnoses were given initially to 87% of individuals with FOP. This astonishing rate of diagnostic errors occurred worldwide, regardless of ethnicity, geographic background, or misdiagnosing physician's specialty. The most common incorrect diagnosis was cancer (32%). The mean period from the onset of symptoms to correct diagnosis was 4.1 years, and the median number of physicians consulted before the correct diagnosis of FOP was 6. For 67% of patients, unnecessary invasive procedures (biopsies) were performed; 68% received inappropriate therapies. Forty-nine percent of all patients reported permanent loss of mobility resulting from invasive medical interventions that caused posttraumatic ossification. Notably, only 8% of the 184 textbooks that were reviewed contained adequate descriptions of FOP, including the caution that trauma can accelerate the process of heterotopic ossification.Conclusions. T he accurate diagnosis of disease has been a basic principle of medical care since antiquity. Mistaken or delayed diagnosis can lead to morbidity or death through use of inappropriate procedures or through withholding of necessary treatments. R...

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“…There is some evidence that the disorder is transmitted as a dominant trait. 3 The affected person becomes stiff as wood, and has to be supported in order to turn from supine to standing position. 2 New bone deposits are laid in connective tissue between the muscle fibers, with characteristic sparing of the muscles of facial expression, the diaphragm, laryngeal muscles, and tongue.…”

Section: Discussionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva

et al. 1999

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Fibrodysplasia ossificans progressiva (FOP) is a rare disorder. The striking features of the disorder are the replacement of muscles, tendons, and aponeuroses by masses of bone, and the presence of certain skeletal abnormalities. In this report, we describe a woman who has literally grown up in bed since the age of three years. Case ReportA 38-year-old female, product of a non-consanguineous marriage, developed progressive weakness, generalized pains, and stiffness of muscles around the third year of her life. This steadily worsened and she became bedridden within a year, and has grown up in bed for the last three-and-a-half decades. She had normal pubertal development and was menstruating regularly. During this period, she had multiple admissions in various hospitals, with excision of hard masses from her legs performed on many occasions.Clinical examination revealed a young female with pulse rate of 80 beats per minute and BP of 120/70 mm Hg. She was 140 cm tall, weighed 39 kg, and had mild hirsutism. She could not sit up in bed and moved like a log of wood with help. She had a short neck, thick broad hands, small feet with bilateral hallux valgus, and short digits. She had multiple scars (from previous surgeries) and multiple areas of induration. She also had flexion contractures of both elbows, and hard bony swellings in multiple places. Examination of chest, cardiovascular system, abdomen and nervous system was normal. Tuning fork tests revealed a normal hearing pattern. Investigations revealed mild hypochromic microcytic anemia, but normal kidney and liver functions. Her serum calcium, phosphorus, alkaline phosphatase and albumin were normal on three occasions. Chest x-ray, 12-lead electrocardiogram, and ultrasonography of abdomen were normal. Radiological screening revealed diffuse muscular calcification in pelvis (Figure 1), thighs, and legs and feet (Figure 2). Histopathology of the muscle biopsy specimen from one of the hard masses revealed features consistent with fibrodysplasia ossificans.

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Genetic aspects of fibrodysplasia ossificans progressiva.

Cited by 113 publications

References 12 publications

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP)

Iatrogenic Harm Caused by Diagnostic Errors in Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva

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