RT Book, Section
A1 McCarthy, Jeanette J.
A1 Mendelsohn, Bryce A.
SR Print(0)
ID 1134734909
T1 The Newborn
T2 Precision Medicine: A Guide to Genomics in Clinical Practice
YR 2016
FD 2016
PB McGraw-Hill Education
PP New York, NY
SN 9781259644139
LK accessmedicine.mhmedical.com/content.aspx?aid=1134734909
RD 2024/04/19
AB The  diagnosis  and  management  of  Mendelian  (i.e.,  single  gene)  dysmorphic  or  metabolic  syndromes  in  newborns  and  children  constitutes  a  major  branch  of  the  classical  practice  of  Medical  Genetics.  Though  the  care  and  study  of  rare  diseases  in  children  also  is  being  revolutionized  by  advances  in  genetic  technologies,  Mendelian  genetics  has  long  been  a  mature  clinical  field.  Therefore,  even  a  cursory  overview  of  the  accumulated  knowledge  of  the  diagnosis  and  care  of  Mendelian  disorders  in  children  would  enormously  exceed  the  scope  of  this  book.  Rather,  in  keeping  with  its  goals,  the  aim  of  this  and  following  chapters  will  be  to  (1)  empower  nongeneticist  practitioners  with  a  rational  approach  to  the  child  with  a  suspected  genetic  disorder,  (2)  demystify  the  typical  evaluation  of  a  suspected  disorder  by  a  specialist,  and  (3)  describe  critical  areas  of  recent  or  anticipated  advancement  where  the  nongeneticist  will  likely  play  an  increasingly  important  role  in  applying  genomic  technologies  to  the  care  of  children.