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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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X-rays of the lumbar spine (a: anterior posterior and b: lateral view) demonstrating mild lumbar scoliosis and defects of the anterior cortical rims of the vertebral endplates.
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Figure 1: X-rays of the lumbar spine (a: anterior posterior and b: lateral view) demonstrating mild lumbar scoliosis and defects of the anterior cortical rims of the vertebral endplates.

Mentions: Radiological examinations of the spine and the pelvis, elbows, hands, and knees were performed. Mild lumbar scoliosis was observed (Figure 1a). Structural changes of the vertebral bodies were limited to defects of the anterior cortical rims of the vertebral endplates (Figure 1b). Radiological examination of the pelvis showed deformity of the femoral heads, shortened and broadened femoral necks and bilateral osteoarthritis of the hip joints (Figure 2). Radiological examinations of the elbow joints revealed dysplastic deformity of the radial head on both sides (Figure 3a, b). The hands showed narrowed joint spaces of MCP II bilaterally, but no further deformity. Radiological examinations of the knees revealed multisegmental patellae, consisting of anterior and posterior components divided by a coronal septum (Figure 4a, b). This finding has been described before as "double-layered" or "multilayered" patella [16,19]. Both medial tibial plateaus were dysplastic (Figure 4a, b).


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)

X-rays of the lumbar spine (a: anterior posterior and b: lateral view) demonstrating mild lumbar scoliosis and defects of the anterior cortical rims of the vertebral endplates.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: X-rays of the lumbar spine (a: anterior posterior and b: lateral view) demonstrating mild lumbar scoliosis and defects of the anterior cortical rims of the vertebral endplates.
Mentions: Radiological examinations of the spine and the pelvis, elbows, hands, and knees were performed. Mild lumbar scoliosis was observed (Figure 1a). Structural changes of the vertebral bodies were limited to defects of the anterior cortical rims of the vertebral endplates (Figure 1b). Radiological examination of the pelvis showed deformity of the femoral heads, shortened and broadened femoral necks and bilateral osteoarthritis of the hip joints (Figure 2). Radiological examinations of the elbow joints revealed dysplastic deformity of the radial head on both sides (Figure 3a, b). The hands showed narrowed joint spaces of MCP II bilaterally, but no further deformity. Radiological examinations of the knees revealed multisegmental patellae, consisting of anterior and posterior components divided by a coronal septum (Figure 4a, b). This finding has been described before as "double-layered" or "multilayered" patella [16,19]. Both medial tibial plateaus were dysplastic (Figure 4a, b).

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