Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bilateral hip degeneration and dislocation. Few authors have reported to date the surgical management of this orthopaedic disorder. We present two new cases affecting siblings. One brother was treated by unilateral triple pelvic osteotomy combined with varus osteotomy of the proximal femur; the other was treated by bilateral Pemberton osteotomies with varus osteotomy of the proximal femur. At a respective 5-year and 3-year follow-up delay, both cases had evolved towards progressive subluxation recurrence along with severe hip degeneration. Based on both our experience and literature review, it seems that one should avoid operating these hips unless pain renders surgery mandatory. Total hip arthroplasty seems the only reliable surgical solution at the adult age and paediatric surgeons should keep in mind that previous femoral osteotomies will make it more challenging for adult orthopaedic surgeons to implant on a remodeled anatomy.
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http://dx.doi.org/10.1016/j.otsr.2013.04.006 | DOI Listing |
Mol Biol Rep
December 2024
Faculty of Medical Sciences, Mohamed VI Polytechnic University, Benguerir, Morocco.
Background: Dyggve-Melchior-Clausen (DMC) disease is a rare autosomal recessive disorder primarily characterized by spondylo-epimetaphyseal dysplasia, intellectual disability, and distinctive facial features. Patients typically present with severe developmental delays and cognitive impairments, defining features of the syndrome.
Methods And Results: This case report examines a 13-year-old Moroccan child diagnosed with DMC disease, presenting classical skeletal abnormalities, including spondylo-epimetaphyseal dysplasia, as confirmed through exome sequencing.
Cureus
September 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Dyggve-Melchior-Clausen (DMC) disease, also known as DMC syndrome, is a rare, progressive genetic disorder that is characterized by skeletal and intellectual abnormalities. The case report involves a four-year-old male child presenting with marked short stature, intellectual disability, coarse facies, and microcephaly. Initial investigations, including blood tests and radiological evaluations, prompted further genetic testing via whole-exome sequencing.
View Article and Find Full Text PDFAm J Med Genet A
October 2024
Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondylo-epi-metaphyseal dysplasias with identical radiological and clinical findings. DMC and SMC type 1 are allelic disorders caused by homozygous or compound heterozygous variants in DYM, while biallelic causative variants in RAB33B lead to SMC type 2. The terminology "skeletal golgipathies" has been recently used to describe these conditions, highlighting the pivotal role of these two genes in the organization and intracellular trafficking of the Golgi apparatus.
View Article and Find Full Text PDFArthroplast Today
June 2024
Department of Orthopaedic Surgery, Montefiore Medical Center, New York City, NY, USA.
Dyggve-Melchior-Clausen (DMC) disease is a rare spondyloepiphyseal autosomal recessive disorder characterized by skeletal dysplasia and intellectual disability. Hip arthritis, often secondary to hip dysplasia, presents at an early age. Current literature suggests that osteotomies do not benefit DMC syndrome-associated hip disease but reports of total hip arthroplasty in these patients are lacking.
View Article and Find Full Text PDFSultan Qaboos Univ Med J
February 2024
Neurology & Neurophysiology Center, Vienna, Austria.
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