| Answer to PhotoQuiz 52 |
| Dyggve-Melchior-Clausen disease (OMIM #223800) |
| Dyggve-Melchior-Clausen (DMC) disease is an autosomal recessive skeletal dysplasia caused by biallelic mutations in the DYM gene (OMIM*607461). It is characterized by disproportionate short stature, microcephaly, facial dysmorphism, psychomotor delay and intellectual disability. Skeletal radiographs in patients with DMC disease show features of spondyloepimetaphyseal dysplasia along with additional typical findings such as small iliac wings with lacy appearance of the iliac crests, platyspondyly with notched end plates, and multicentric ossification of proximal humeral and femoral epiphyses. Smith-McCort dysplasia 1 is an allelic disorder, with similar skeletal findings, but with normal intellect. |
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| Correct responses were given by: |
| 1. Dr Poonam Singh Gambhir, Vardaan Genetic and Diagnostic Centre, Kanpur 2. Dr Kruti Varshney, Centre for Human Genetics, Bangalore 3. Dr Anupriya Kaur, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh 4. Dr Komal Uppal, All India Institute of Medical Sciences (AIIMS), New Delhi 5. Dr Moni T Bhatia, Noble Heart and Superspeciality Hospital, Rohtak 6. Dr Vibha Jain, Anuvanshiki - The Genetic Centre, Ghaziabad 7. Dr SG Vijayasri, Institute of Child Health and Hospital for Children, Chennai 8. Dr Ashka Prajapati, Genetic Care Clinic and CIMS Hospital, Ahmedabad 9. Dr Haseena A, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 10. Dr Lekshmi S Nair, NIMS Medicity, Neyyatinkara, Kerala 11. Dr Bhawana Aggarwal, All India Institute of Medical Sciences (AIIMS), New Delhi 12. Dr Beena Suresh, Mediscan Systems, Chennai 13. Dr Surya G Krishnan, Indira Gandhi Institute of Child Health, Bangalore 14. Dr Meenakshi Lallar, Prime Prenatal Imaging and Diagnostics, Chandigarh & Medgenome, Bengaluru |