Contributed by: Dr Shubha Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India		  
  Email: shubharaophadke@gmail.com  
  This 4-year-old female child was referred for evaluation of short stature, waddling gait, and bowing of legs. Her serum biochemical parameters (normal values given in the brackets) were as follows: parathyroid hormone: 1.81pmol/l (1.1-6.6); 25 hydroxy vitamin D3: 79.06 nmol/l (50-250); calcium: 9.7mg/dL (8.8-10.8); phosphorus: 5.6mg/dL (3.2-5.8); and alkaline phosphatase: 331 IU/L (100-320). Identify the condition.  
 

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Answer to PhotoQuiz 53
Neu-Laxova syndrome (OMIM #256520 & #616038)
 
Neu-Laxova syndrome (NLS) is a rare autosomal recessive disorder characterized by microcephaly, typical facial dysmorphism in the form of proptosis, hypertelorism, micrognathia, ear anomalies, flattened nose and a round gaping mouth, a short neck, cleft lip/ palate, ichthyosis, intrauterine growth restriction, intracranial anomalies (including lissencephaly, cerebellar hypoplasia, and agenesis of the corpus callosum), limb deformities, cardiac and renal anomalies, edema, and hypoplastic lungs. Majority of affected babies die in the perinatal period. It is caused by biallelic variants in the PHGDH gene (*606879; NLS1) or the PSAT1 gene (*610936; NLS2).
 
 
Correct responses were given by:
1. Dr Haseena A Sait. Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
2. Dr Veronica Arora. Sir Ganga Ram Hospital, New Delhi, India.
3. Dr Meenakshi Bhat. Centre for Human Genetics, Bengaluru, India.
4. Dr Kanika Singh. Sir Ganga Ram Hospital, New Delhi, India.
5. Dr Beena Suresh. Mediscan Systems, Chennai, India.
6. Dr Vinu N. Centre for Human Genetics, Bengaluru, India.
7. Dr Neelam Saini. Nizam's Institute of Medical Sciences, Hyderabad, India.
8. Dr M L Kulkarni. JJM Medical College, Davangere, India.
9. Dr Sapna Sandal. Sir Ganga Ram Hospital, New Delhi, India.