Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 7950  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Articlesmenu-bullet Search Instructions Online Submission Subscribe Etcetera Contact
 
  NAVIGATE Here 
  Search
 
 :: Ahead Of print
 ::  Search Pubmed for
 
    -  Mondkar S A
    -  Khadilkar V
    -  Kasegaonkar P
    -  Khadilkar A
 :: Article in PDF

  IN THIS Article
 ::  Abstract

 Article Access Statistics
    Viewed163    
    PDF Downloaded4    

Recommend this journal


 

Previous Article  Table of Contents    
CASE REPORT
Ahead of print publication

SOFT syndrome with Kohlschutter–Tonz syndrome


1 Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India
2 Department of Neurology, CNS Hospital, Solapur, Maharashtra, India

Date of Submission30-Dec-2022
Date of Decision23-May-2023
Date of Acceptance24-Jul-2023
Date of Web Publication07-Sep-2023

Correspondence Address:
A Khadilkar,
Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpgm.jpgm_1001_22

PMID: 37706418


 :: Abstract 


We report a 2.2 year-old-boy, born of consanguineous marriage, referred for short stature, with history of neonatal death and skeletal deformities in his older sibling. Rhizo-mesomelic dwarfism was detected antenatally. Within 24 hours of birth, he developed multiple seizures. Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth, pointed chin, and triangular facies. He had rhizomelic shortening, stubby fingers, pes planus, and scanty hair. Neurological evaluation revealed ataxia, hypotonia, and global developmental delay. Skeletal survey radiograph revealed shallow acetabuli, short femurs and humerus, short, broad metacarpals and short cone-shaped phalanges with cupping of phalangeal bases. Clinical exome analysis revealed homozygous mutations involving the POC1A gene and the SLC13A5 gene responsible for SOFT syndrome and Kohlschutter-Tonz syndrome respectively, which were inherited from the parents. Both these syndromes are extremely rare, and their co-occurrence is being reported for the first time.


Keywords: Epileptic encephalopathy, POC1A, short stature, SLC13A5, syndromic



How to cite this URL:
Mondkar S A, Khadilkar V, Kasegaonkar P, Khadilkar A. SOFT syndrome with Kohlschutter–Tonz syndrome. J Postgrad Med [Epub ahead of print] [cited 2023 Sep 26]. Available from: https://www.jpgmonline.com/preprintarticle.asp?id=385386


.




 

Top
 
Previous Article 
Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow