RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164073763
T1 Immunodeficiency Centromeric Instability and Facial Anomalies Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164073763
RD 2024/04/19
AB Syndrome  characterized  by  immune  deficiency  associated  with  recurrent  infections  and  facial  dysmorphism.  The  dysmorphic  facial  features  are  variable  and  include  a  broad  flat  nasal  bridge,  hypertelorism,  and  epicanthic  folds.  The  presence  of  micrognathia  and  macroglossia  is  a  significant  consideration  in  anesthesia.  Other  features  include  mental  retardation  and  neurologic  defects  in  about  one-third  and  one-fifth  of  the  patients,  respectively.  Slow  cognitive  and  motor  development  as  well  as  psychomotor  impairment  such  as  ataxic  gait  and  muscular  hypotonia.