RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164060517
T1 Acrofacial Dysostosis Lethal Type of Rodriguez (Acrofacial Dysostosis, Madrid Type)
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=1164060517
RD 2024/04/19
AB This  extremely  rare  disease  has  autosomal  recessive  inheritance  and  is  characterized  by  short  stature,  malar  hypoplasia,  downslanting  palpebral  fissures,  prominent  and  broad  nasal  bridge,  cleft  palate,  severe  micrognathia  and  microstomia,  low-set  auricles  with  microtia  and  stenotic  or  atretic  ear  canals,  predominantly  preaxial  limb  deficiencies  with  phocomelia  and  oligodactyly  of  the  upper  limbs,  shoulder  (hypoplastic  scapulae)  and  pelvis  girdle  hypoplasia,  absence  of  fibula,  and  oligodactyly  of  the  feet.  Other  findings  include  arhinencephaly,  congenital  cardiac  defects  (atrial  and  ventricular  septal  defects,  subvalvar  pulmonary  atresia),  abnormal/absent  lung  lobulation,  11  pairs  of  ribs,  and  coronal  clefts  of  cervical  vertebrae.  All  three  of  the  originally  described  patients  died  shortly  after  birth  (two  on  the  first  day,  the  third  on  the  sixth  day  of  life)  from  respiratory  complications  secondary  to  severe  mandibular  hypoplasia.  It  is  very  unlikely  that  one  of  these  patients  would  present  for  anesthesia;  however,  one  could  get  involved  in  initial  resuscitation  efforts  at  birth  requiring  airway  management.  Difficult  airway  management  and  peripheral  vascular  access  would  be  almost  certain  and  the  same  anesthetic  concerns  and  pharmacologic  implications  as  described  here  for  the  other  forms  of  severe  acrofacial  dysostosis  (particularly  Nager  and  Miller  Types)  would  apply.