Craniofacial Anthropometry in Escobar Syndrome in a Sample of Egyptians

نوع المستند : Research Article

المؤلفون

1 National Research Centre

2 Faculty of African Postgraduate Studies

3 National Research Centre,

المستخلص

Multiple  pterygium  syndromes  (MPSs)  are phenotypically  and genetically  heterogeneous  syndromes  that  can  be  broadly  divided  into lethal form, and nonlethal form which is Escobar syndrome. It is caused by  mutations  in  the  CHRNG  gene  provides  instructions  for  part  of  the acetylcholine receptor (AChR) protein found in skeletal muscle cells and is critical for signaling between nerve and muscle cells which is necessary for  movement.  Clinical,  genetical,  facial  and  oro-dental  manifestations were preciously observed and recorded for Escobar patients. Craniofacial anthropometric data was summarized using mean and standard deviation for  quantitative  variables  and  comparisons  between  patient  and  normal groups  were  done  using  unpaired  t  test.  P-values  less  than  0.05  were considered as statistically significant.

الكلمات الرئيسية