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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T - BMC Musculoskelet Disord (2010)

Bottom Line: In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state.Carrier status was confirmed in the DNA of the patient's parents.Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Sports Medicine and Sports Nutrition, University of Bochum, Bochum, Germany.

ABSTRACT

Background: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms.

Case presentation: We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED with habitual dislocation of a multilayered patella on both sides, on the surgical treatment and on short-term clinical outcome. Clinical findings were: bilateral hip and knee pain, instability of femorotibial and patellofemoral joints with habitual patella dislocation on both sides, contractures of hip, elbow and second metacarpophalangeal joints. Main radiographic findings were: bilateral dislocated multilayered patella, dysplastic medial tibial plateaus, deformity of both femoral heads and osteoarthritis of the hip joints, and deformity of both radial heads. In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state. Carrier status was confirmed in the DNA of the patient's parents. The mutation could be considered to be the reason for the patient's disease. Surgical treatment of habitual patella dislocation with medialisation of the tibial tuberosity led to an excellent clinical outcome.

Conclusions: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis. Compared to other DTDST mutations, this is a rather mild phenotype. Molecular diagnosis is important for genetic counselling and for an accurate prognosis. Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

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Postoperative x-ray (a: skyline view (60° flexion) and b: anterior posterior view) of both knees demonstrating well centred patellae.
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Figure 6: Postoperative x-ray (a: skyline view (60° flexion) and b: anterior posterior view) of both knees demonstrating well centred patellae.

Mentions: One year after surgery on the second (right) knee (two years after the first), the patient was highly satisfied with the results and free from pain in both knees. No re-dislocation of patellae had happened until that time. The clinician rated Knee Society score [23] for the right/left knee was 80/88 (out of 100 possible) points for the "knee score" (including pain, range of motion and stability). The "functional score" (including walking and stair climbing) was 100 (out of 100 possible) points for both knees. Asif and Choon [24] suggested to rate scores higher than 80 points as "excellent" when using the Knee Society score as an outcome measure after total knee replacement. The patient's walking distance was unlimited and he was able to work full time in his job as an engineer. Radiological examination showed centred patellae on both sides and bony fusion of the medialised tuberosity (Figure 6a, b). Screws were removed on both sides simultaneously.


Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T - BMC Musculoskelet Disord (2010)

Postoperative x-ray (a: skyline view (60° flexion) and b: anterior posterior view) of both knees demonstrating well centred patellae.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2902411&req=5

Figure 6: Postoperative x-ray (a: skyline view (60° flexion) and b: anterior posterior view) of both knees demonstrating well centred patellae.
Mentions: One year after surgery on the second (right) knee (two years after the first), the patient was highly satisfied with the results and free from pain in both knees. No re-dislocation of patellae had happened until that time. The clinician rated Knee Society score [23] for the right/left knee was 80/88 (out of 100 possible) points for the "knee score" (including pain, range of motion and stability). The "functional score" (including walking and stair climbing) was 100 (out of 100 possible) points for both knees. Asif and Choon [24] suggested to rate scores higher than 80 points as "excellent" when using the Knee Society score as an outcome measure after total knee replacement. The patient's walking distance was unlimited and he was able to work full time in his job as an engineer. Radiological examination showed centred patellae on both sides and bony fusion of the medialised tuberosity (Figure 6a, b). Screws were removed on both sides simultaneously.

Bottom Line: In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state.Carrier status was confirmed in the DNA of the patient's parents.Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Sports Medicine and Sports Nutrition, University of Bochum, Bochum, Germany.

ABSTRACT

Background: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms.

Case presentation: We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED with habitual dislocation of a multilayered patella on both sides, on the surgical treatment and on short-term clinical outcome. Clinical findings were: bilateral hip and knee pain, instability of femorotibial and patellofemoral joints with habitual patella dislocation on both sides, contractures of hip, elbow and second metacarpophalangeal joints. Main radiographic findings were: bilateral dislocated multilayered patella, dysplastic medial tibial plateaus, deformity of both femoral heads and osteoarthritis of the hip joints, and deformity of both radial heads. In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state. Carrier status was confirmed in the DNA of the patient's parents. The mutation could be considered to be the reason for the patient's disease. Surgical treatment of habitual patella dislocation with medialisation of the tibial tuberosity led to an excellent clinical outcome.

Conclusions: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis. Compared to other DTDST mutations, this is a rather mild phenotype. Molecular diagnosis is important for genetic counselling and for an accurate prognosis. Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

Show MeSH
Related in: MedlinePlus