RT Book, Section
A1 Zadeh, Neda
A2 Stevenson, David K.
A2 Cohen, Ronald S.
A2 Sunshine, Philip
SR Print(0)
ID 1109799442
T1 Common Dysmorphic Syndromes
T2 Neonatology: Clinical Practice and Procedures
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071763769
LK accesspediatrics.mhmedical.com/content.aspx?aid=1109799442
RD 2024/04/24
AB Numerous  genetic  conditions  are  evident  and  diagnosable  during  the  neonatal  period  because  of  a  specific  pattern  of  clinical  features  often  present  on  infant  physical  examination.  This  chapter  reviews  several  of  the  more  frequently  observed  genetic  dysmorphic  conditions  neonatal  practitioners  are  most  likely  to  encounter  in  a  newborn  (apart  from  the  common  trisomies  that  are  addressed  separately  in  this  textbook),  which  include:  Turner  syndrome  (TS),  22q11.2  deletion  syndrome,  CHARGE  (coloboma,  heart  defect,  atresia  choanae  [also  known  as  choanal  atresia],  retarded  growth  and  development,  genital  abnormality,  and  ear  abnormality)  syndrome,  and  VACTERL  (vertebral,  anal,  cardiac,  tracheoesophageal,  renal,  and  limb)  association.