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Genetic Counseling
Introduction
 
Archives
Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Neu laxova  
     
 
 
 
     
  Clinical  
  Severe microcephaly, multiple joint contractures, severe intrauterine growth retardation, slanted forehead, retracted eyelids, microphthalmia, subcutaneous oedema and ichthyosis / collodion skin with early death. Brain malformations may include lissencephaly, agenesis of the corpus callosum and hypoplastia of the cerebellum.  
     
  Differential diagnosis  
  Differentiate from the Cerebro-oculo-facio-skeletal syndrome.  
     
  Diagnosis  
  Autosomal Recessive