INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

January - March 2023 | Vol 16 | Issue 1 | Page No 01

Miles to go!

As the year 2019 dawns, I take this opportunity to reflect on the evolvement of our society, the Indian Academy of Medical Genetics, which enters the eighth year and our quarterly publication, Genetic Clinics which completes eleven years. Starting with small steps, Genetic Clinics has made its presence felt among the professionals.

Dr. Girisha KM

Abstracts

January to March 2019| Vol 12 | Issue 1 | Page No 2-5

Abstracts

In this special issue of Genetic Clinics, we are publishing five selected abstracts from the ones that were submitted for the 4th International Conference on Birth Defects (ICBD) and the 5th Annual National Conference of the Society for Indian Academy of Medical Genetics (SIAMCON 2018), held in Christian Medical College, Vellore, Tamil Nadu, on 13th – 15th December 2018.

Ms. Parneet Kaur

Clinical Vignette

January to March 2019| Vol 12 | Issue 1 | Page No 6-8

Genetic and Radiographic Profile of a Family with Osteopoikilosis

Osteopoikilosis is a rare condition of bones inherited in an autosomal dominant manner caused by mutations in LEMD3. It is characterized by sclerotic bone lesions in the epiphyses and metaphyses of long tubular bones, carpal bones, tarsal bones, pelvis, and scapulae (Serdaroglu et al., 2007).

Dr Katta M Girisha

GeNeXprESS

January to March 2019| Vol 12 | Issue 1 | Page No 9-12

Emerging Therapies for Rare Genetic Disorders

X-linked hypophosphatemia, the most common heritable form of rickets, is caused due to loss-of-function mutations in the PHEX gene. It is characterized by increased secretion of fibroblast growth factor 23 (FGF-23) which leads to renal phosphate wasting, hypophosphatemia, rickets and osteomalacia, stunted growth, skeletal deformity, pain and limitation of daily activities.

Dr Deepti Saxena

PhotoQuiz

January to March 2019| Vol 12 | Issue 1 | Page No 13

This 4.5 months-old male child, born to second degree consanguineous parents, was referred for evaluation of contractures of elbow, knee and ankle joints along with edema of the hand and feet and skin lesions on the lower limbs. He had excessive crying due to severe pain with movement.

Dr Prajnya Ranganath

GeNeEvent

Fourth International Conference on Birth Defects (ICBD) & Fifth Annual National Conference of the Society for Indian Academy of Medical Genetics (SIAMGCON 2018)