J Child Orthop (2009) 3:451–458 DOI 10.1007/s11832-009-0211-8 ORI G INAL CLINICAL ARTICLE Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families • • • Mona S. Aglan Samia A. Temtamy Ekram Fateen • • Adel M. Ashour Khamis Eldeeb Gamal A. Hosny Received: 19 August 2009 / Accepted: 23 September 2009 / Published online: 9 October 2009 EPOS 2009 Abstract glycosaminoglycans in the urine and measurement of Introduction Dyggve–Melchior–Clausen (DMC) syn- a-L-iduronidase and galactose-6-sulfatase enzyme activities drome is a rare autosomal recessive type of skeletal dys- to exclude Hurler and Morquio diseases (MPS type I and plasia. It is characterized by the association of progressive MPS type IVA), respectively. Other investigations were spondyloepimetaphyseal dysplasia (SEMD), microcephaly, carried out whenever indicated. All patients were the off- mental retardation (MR), and coarse facies. The radio- spring of consanguineous apparently normal parents. graphic appearance of generalized platyspondyly with Positive family history and similarly affected sibs were double-humped end plates and the lace-like appearance of noted, conﬁrming the autosomal recessive inheritance iliac crests are pathognomonic and distinctive of DMC pattern of the syndrome. Short stature, microcephaly, var- syndrome. The disorder results from mutations in the DYM iable
Journal of Children's Orthopaedics – Springer Journals
Published: Oct 9, 2009
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