Contributed by: Dr Prajnya Ranganath
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad 		 
  Email: prajnyaranganath@gmail.com  
  This patient was referred for evaluation of short stature, dysmorphic features and skeletal anomalies. His skeletal radiographs are provided. Identify the condition.  
 

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Answer to PhotoQuiz 56
Histiocytosis-Lymphadenopathy Plus Syndrome (OMIM #602782)
 
Histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome, is a multisystemic histiocytosis disorder characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, short stature, cervical and inguinal lymphadenopathy, and insulin-dependent diabetes mellitus. It is caused by biallelic pathogenic variants in the SLC29A3 gene (*612373) and has an autosomal recessive pattern of inheritance.
 
 
Correct responses were given by:
1. Dr Surya G Krishnan. Indira Gandhi Institute of Child Health, Bangalore, India.
2. Dr Ravneet Kaur. ABVIMS& RML Hospital, Delhi, India.
3. Dr Kanika Singh. Maulana Azad Medical College, Delhi, India.
4. Dr Sarah Bailur. Rainbow Children's Hospital, Hyderabad, India.
5. Dr Kishore Sai. Kasturba Medical College, Manipal, India.
6. Dr Rajeshwari N. Dr Kamakshi Memorial Hospital, Chennai, India.
7. Dr Beena Suresh. Mediscan Systems, Chennai, India.
8. Dr Veronica Arora. Sir GangaRam Hospital, Delhi, India.
9. Dr Kruti Varshney. Centre for Human Genetics, Bangalore, India.
10. Dr Tripty Singh. AIIMS-Raipur, Raipur, India.
11. Dr Komal Uppal. Lok Nayak Hospital, Delhi, India.
12. Dr Neha Agrawal. Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India
13. Dr Nishant Rathod. NeuroWorld Clinic, Rajkot, India.
14. Dr Sheeba Farooqui.Kasturba Medical College, Manipal, India.
15. Dr Vivekananda Bhat. Kasturba Medical College, Manipal, India.