TY  - CHAP
M1  - Book, Section
TI  - Johanson-Blizzard Syndrome (JBS)
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - A  polymalformative  syndrome  characterized  by  nasal  alar  hypoplasia  (beak  shaped),  scalp  defects,  hypothyroidism,  pancreatic  achylia,  congenital  heart  defects,  and  congenital  sensorineural  deafness.  Usually  detected  at  birth  when  beak-shaped  nasal  defect  is  noticed  in  association  with  pancreatic  insufficiency  and  the  presence  of  an  imperforate  anus.  Important  features  in  anesthesia  include  in  these  infants  distinctive  craniofacial  abnormalities  with  aplasia  or  hypoplasia  of  the  nasal  alae,  maxillary  hypoplasia,  a  small  pointed  chin,  and  small  opening  of  the  mouth  and  microcephaly.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164074272
ER  -