Related Experiment Video
Updated: Aug 15, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia)
Ilkay Koray Bayrak1, Mehmet Selim Nural, H Bariş Diren
1Department of Radiology, Ondokuz Mayis University School of Medicine, Samsun, Turkey. ilkaykoray@hotmail.com
Abstract:
Radiographic features of a 15-year-old boy with Smith-McCort dysplasia are presented. Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia. Both of these syndromes are rare autosomal recessive disorders affecting skeletal development. The radiographic appearance of generalized platyspondyly with double-humped end-plates, and the lace-like appearance of iliac crests are pathognomonic and distinctive of these syndromes. Diagnostic features of these diseases are compared with others like Morquio's disease and spondylometaphyseal dysplasia, which may have similar vertebral changes, and are discussed in the light of the literature.
More Related Videos
08:03Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Intellectual Disability
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Sex-linked Disorders
Meiosis I
Language and Cognition