Contributed by: Girisha KM  
  The clinical photograph and radiograph of a 20 weeks female fetus are shown. Cleft palate, atrial septal defect and unilateral hydronephrosis, brachydactyly of hands and feet and bilateral syndactyly of T3 and T4 were also noted in the fetus. Diagnose the condition.  

Please send your responses to

  Click here to submit you answer  
Answer to PhotoQuiz 36
Nephrosialidosis (OMIM 256150)
Neuraminidase deficiency (OMIM: #256550; which includes sialidosis type I and type II) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the NEU1 gene, which results in progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. Clinical features include short stature, developmental delay, coarse facies, hearing loss, inguinal hernia in males, hepatosplenomegaly, cherry red spot in macula, proteinuria, increased urinary sialyl oligosaccharides and glycopeptides, dysostosis multiplex and periosteal cloaking of long bones. An early form of glomerular nephropathy with clinical features of sialidosis type II which can progress to renal failure can occur in neuraminidase deficiency with clinical features of sialidosis type II and has been named as nephrosialidosis (MIM: 256150).
Correct responses were given by:
1. Jagadish Bhat, Goa
2. Srikanth, New Delhi
3. Prashant Kumar Verma, Jaipur
4. G Aruna, Bengaluru
5. Sameer Bhatia, Dehradun
6. Niby J Elackatt, Bengaluru
7. Jai Prakash Soni, Jodhpur
8. Vivekananda Bhat, Bengaluru
9. Mansi Vishal, Ahmedabad
10. Parag Mohan Tamhankar, Mumbai