title: Dyggve melchior clausen syndrome.
abstract: Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.
authors.affiliation: Department of Pediatrics and Neonatology, Dr Ram Manohar Lohia Hospital, New Delhi, India. yzaygupta@gmail.com
authors.forename: V
authors.initials: V
authors.lastname: Gupta
authors.forename: A
authors.initials: A
authors.lastname: Kohli
authors.forename: V
authors.initials: V
authors.lastname: Dewan
mesh_terms: D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000473:pathology