Volume 4 - Issue 2
Suresh Chelliah1,*, Meganathan1, Senthil Velmurugan2
1Department of Paediatrics, Kauvery Hospital, Trichy - Cantonment, India
2Department of Radiology, Kauvery Hospital, Trichy - Tennur, India
Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms. Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay .
A 1 year 6 months old female baby born of third-degree consanguineous marriage presented to our outpatient with short stature, delayed mile stones (predominantly motor) for further work up. On Examination she had Dysmorphic facies, short stature, cubitus varus and genu varus deformity. Differentials considered were Mucopoly sacharidosis, Morquio or metaphyseal dysplasias.
Investigations revealed normal Calcium, Phosphorus, Alkaline Phosphatase and Vitamin D Levels. X Ray was suggestive of Mataphyseal Dysplasia.
Exome Sequencing showed Krakow type of Spondylo-epi-metaphyseal.
Senior Consultant Paediatrician (Head - Academics)