Dyggve-Melchior-Clausen syndrome

Gupta, Vijay; Kohli, Adarsh; Dewan, Vivek

doi:10.1007/s13312-010-0151-x

Cited by 5 publications

(12 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…During the clinical surveys of our patients, including body examination, and radiological investigations, a clinical feature of rhizomelic shortening was not established in all cases, and case-I (IV-7) did not manifest microcephaly. These are the prominent features of DMC patients, as described in several previous studies (4,5,10,13). The manifestation of mild to severe intellectual disability in all three affected members and microcephaly in male patients, helped us to categorize them as DMC patients instead of SMC patients.…”

Section: Discussionmentioning

confidence: 58%

“…DMC includes various phenotypes like short stature, short trunk, and intellectual disability. Additional symptoms of DMC are microcephaly, coarse facial feature, rhizomelia, and bone deformity (5,11).…”

Section: Discussionmentioning

confidence: 99%

“…Dyggve-Melchior-Clausen syndrome (DMC, MIM#223800) is a rare autosomal recessive skeletal dysplasia with characteristic symptoms of spondyloepimetaphyseal dysplasia (SEMD), mild to severe intellectual disability, microcephaly, coarse facial features, short stature, other skeletal abnormalities like the double-humped appearance of vertebrae and lacy iliac crests ( 1 – 5 ). The absence of other clinical features like corneal opacity and excretion of keratan sulfate in urine and presence of specific radiological findings differentiate it from Morquio's disease (MPS type IV, MIM 253010) ( 6 ).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

et al. 2020

View full text Add to dashboard Cite

Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause of DMC. Smith-McCort (SMC), another skeletal dysplasia, is also caused by non-synonymous DYM variants. Methods and Results: In the current study, we examined a Pakistani consanguineous family with three affected members. Clinical features like spondyloepimetaphyseal dysplasia, indicative of characteristic skeletal abnormalities, and intellectual disability were observed. Our male patients had microcephaly and coarse facial features while the female patient did not represent microcephaly or abnormal facies, which are significant features of DMC patients. Sanger sequencing identified a novel homozygous frameshift insertion (c.95_96insT, p.W33Lfs * 14) in DYM, which likely leads to nonsense-mediated decay (NMD). Conclusion: The novel frameshift change verifies the fact that pathogenic variants in DYM are the most frequent cause of DMC.

show abstract

Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Similar findings are seen in enchondromatosis (Ollier's disease) [Figure 7] as well as in Smith-McCort syndrome, a condition clinically and radiologically identical to DMC syndrome except for absence of mental retardation. [9] …”

Section: Ossificationmentioning

confidence: 99%

Pelvic radiograph in skeletal dysplasias: An approach

Jana

Nair

Gupta

et al. 2017

Indian Journal of Radiology and Imaging

View full text Add to dashboard Cite

The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.

show abstract

“…A 16-year-old female born of a second degree consanguineous marriage started having failure to thrive, delayed motor milestones and recurrent respiratory tract infections since █ INTRODUCTION D yggve-Melchior-Clausen syndrome (DMC syndrome) is a rare autosomal recessive disease with less than 70 cases reported in world literature. Only 3 cases have been reported in the Indian subcontinent (4,10). The syndrome is more commonly seen in Lebanon, Greenland, Egypt and Morocco (1,11,12).…”

Section: Casementioning

confidence: 99%

Atlantoaxial instability treated with posterior atlantoaxial fixation in two siblings with dyggve-melchior-clausen syndrome.

Shah¹,

Bhambere²,

Ranjan³

et al. 2020

Turkish Neurosurgery

View full text Add to dashboard Cite

AIM:To discuss the rare association of atlantoaxial instability in patients with the Dyggve-Melchior-Clausen syndrome, a rare autosomal recessive disease characterized by progressive spondyloepimetaphyseal dysplasia and mild to severe mental retardation. MATERIAL and METHODS:We report an uncommon association of two siblings with Dyggve-Melchior-Clausen syndrome, odontoid hypoplasia and atlantoaxial instability. Both the patients were treated with Goel's atlantoaxial fixation procedure. RESULTS:The patients had a remarkable neurological recovery following the stabilization procedure. CONCLUSION:Atlantoaxial instability is a potentially life-threatening condition in patients with this syndrome and should be treated early with atlantoaxial stabilization. Recognition and treatment of atlantoaxial instability in patients with Dyggve-Melchior-Clausen syndrome can give gratifying results.

show abstract

Dyggve-Melchior-Clausen syndrome

Cited by 5 publications

References 9 publications

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

Pelvic radiograph in skeletal dysplasias: An approach

Atlantoaxial instability treated with posterior atlantoaxial fixation in two siblings with dyggve-melchior-clausen syndrome.

Contact Info

Product

Resources

About