Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families |
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| Authors: | Mona S. Aglan Samia A. Temtamy Ekram Fateen Adel M. Ashour Khamis Eldeeb Gamal A. Hosny |
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| Affiliation: | (1) Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, El-Buhouth Street, Dokki, Cairo, 12311, Egypt;(2) Human Genetics and Genome Research Division, Biochemical Genetics Department, National Research Centre, Cairo, Egypt;(3) Orthopedics Department, Alexandria University, Alexandria, Egypt;(4) Orthopedic Surgery, Benha University, Benha, Egypt |
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| Abstract: | Introduction Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive type of skeletal dysplasia. It is characterized by the association of progressive spondyloepimetaphyseal dysplasia (SEMD), microcephaly, mental retardation (MR), and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic and distinctive of DMC syndrome. The disorder results from mutations in the DYM gene mapped in the 18q12-12.1 chromosomal region. |
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| Keywords: | Dyggve–Melchior–Clausen syndrome Orthopedic manifestations Pathognomonic radiological signs Skeletal dysplasia Glycosaminoglycans in urine |
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