Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome

Kenis, Vladimir; Баиндурашвили, А Г; Melchenko, Evgeniy; Grill, Franz; Kaissi, Ali Al

doi:10.3205/000148

Cited by 3 publications

(3 citation statements)

References 12 publications

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“…The team opted for minimally invasive surgery of a guided growth technique, or hemiepiphysiodesis, without long-lasting immobilization and immediate full weight-bearing after the procedure. Six months after the treatment protocol, there was no further progression of the deformity [ 11 ]. Similarly, Yadav et al.…”

Section: Discussionmentioning

confidence: 99%

Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report

Yacoubian,

Cutter,

Alvarado

2024

Arthroplasty Today

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Section: Discussionmentioning

confidence: 99%

Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report

Yacoubian,

Cutter,

Alvarado

2024

Arthroplasty Today

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“…Recombinant growth hormone therapy has indeed been associated with several orthopedic complications including scoliosis and slipped capital femoral epiphysis [ 14 ]. Adult height is severely reduced in DMC syndrome with a height range of 115–127 cm [ 15 ]. It will be interesting to see what the postpubertal height of this patient will be and whether it will be outside of the range of final height typically seen in this disorder.…”

Section: Discussionmentioning

confidence: 99%

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome

Upadhyay

Ruane

Umans

et al. 2022

Case Reports in Endocrinology

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Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve–Melchior–Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient’s rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.

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“…The prognosis is better in DMC related to Morquio disease. We planned the patient for guided growth with eight plates but the patient lost to follow up due to coronavirus disease 2019 [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome – A Case Report

Yadav¹,

Wadia²,

Gawhale³

et al. 2021

JOCR

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Introduction: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC. Case Report: A 6 year -old male child presented with bilateral gradually progressive genu varum deformity of 4 years’ duration. There was no significant past medical and family history. A plain radiograph of his knee, pelvis, and spine shows some classical signs of skeletal dysplasia. A plain radiograph of the pelvis with both hips shows a classical semilunar, irregular lacy appearance around the iliac crest which is a pathognomonic radiological sign of this syndrome. Conclusion: The radiographic lacy appearance of iliac crests and generalized platyspondyly with double-humped end plates are pathognomonic of DMC. Keywords: Genu varum, Dyggve-Melchior-Clausen syndrome, spondyloepimetaphyseal dysplasia.

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Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome

Cited by 3 publications

References 12 publications

Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report

Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome

Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome – A Case Report

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