Contributed by: Dr Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow		  
  Email: shubhraophadke@gmail.com  
  This one-month old baby born to consanguineous parents, was brought with sticky purulent discharge from eyes, absence of body hair and regurgitation of milk [Figures A, B, C, D]. She was seventh in birth order with history suggestive of similar complaints in one elder brother. He expired at 3 months of life due to lower respiratory tract infection which he acquired on day 15 of life. She, her elder brother, father, 2 paternal uncles and a paternal aunt have unusual flat nails [Figures E,F].  
 

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Answer to PhotoQuiz 46
Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata (RCDP) is a rare, peroxisomal disorder, characterized by severe rhizomelic shortening of all 4 limbs with epiphyseal stippling, microcephaly, cataract, characteristic facial features, and severe psychomotor retardation and spasticity. It is genetically heterogeneous: RCDP1 and RCDP5 caused by biallelic mutations in PEX7 and PEX5 genes respectively are peroxisome biogenesis disorders, while RCDP2 and RCDP3 caused by biallelic mutations in GNPAT and AGPS genes respectively, are single peroxisome enzyme deficiencies.
 
Correct responses were given by:
1. Shruti Agarwal, Mumbai
2. Ravneet Kaur, New Delhi
3. Poonam Singh Gambhir, Kanpur
4. Vibha Jain, New Delhi
5. Shalini S Nayak, Manipal
6. Beena Suresh, Chennai
7. Jagadish Bhat, Goa