Genetic Clinics
GeNeDit
January to March 2021| Vol 14 | Issue 1 | Page No 01
From the Editor's desk
I take great pleasure in presenting the 51st issue of Genetic Clinics. We have the honour of publishing in this issue, an invited editorial by Dr John Carey, former editor-in-chief of the American Journal of Medical Genetics.
Dr. Shubha Phadke
PhotoQuiz-59
January to March 2021| Vol 14 | Issue 1 | Page No 01
PhotoQuiz 51
This 10 months-old male child was referred for evaluation of anemia with thrombocytopenia, hepatosplenomegaly, visual impairment with optic atrophy, and hearing loss.
Dr Prajnya Ranganath
Invited Editorial
January to March 2021| Vol 14 | Issue 1 | Page No 02-05
Reflections on Phenotype, Syndrome Delineation, and Six Decades of Medical Genetics
Dr John C Carey, Professor and formerly Vice Chair of Academic Affairs, Department of Pediatrics at the University of Utah, USA, is one of the most eminent medical genetics experts in the world. Throughout his brilliant career, spanning over 4 decades,
Dr John C Carey
Clinical Vignette
January to March 2021| Vol 14 | Issue 1 | Page No 06-09
Hystrix-like Ichthyosis and Deafness Syndrome in a Toddler
Hystrix-like ichthyosis and deafness (HID) syndrome is characterized by ichthyosis, erythrokeratoderma, alopecia and deafness in varying degrees of severity.
Dr Sunita Bijarnia-Mahay
Clinical Vignette
January to March 2021| Vol 14 | Issue 1 | Page No 10-12
Lysinuric Protein Intolerance Presenting with Hepatosplenomegaly and Pancytopenia
Lysinuric protein intolerance (LPI) commonly presents with hyperammonemic encephalopathy and failure to thrive. We report a case of a three-and-a-half-year old boy who presented with failure to thrive, recurrent respiratory tract infections, anemia,
Dr Suvarna Magar
GeNeXprESS
January to March 2021| Vol 14 | Issue 1 | Page No 21-22
Next-Generation Phenotyping in the Next-Generation Sequencing Era
The authors used a novel algorithm by combining two computer algorithms: the Clinical Face Phenotype Space (CFPS) for facial dysmorphism and OpenFace for facial recognition. Using them, they detected the facial gestalt in three novel intellectual
Dr Somya Srivastava
Answers to CrossWord - 01
Click here to see the solution to Crossword - 01 of the previous issue
Correct Responses to Crossword - 01 were given by:
1. Dr Beena Suresh, Mediscan Systems, Chennai
2. Dr Ravneet Bhatia
