RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164060522
T1 Acrofacial Dysostosis, Catania Type (Catania Brachydactylous Type of Acrofacial Dysostosis)
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164060522
RD 2024/04/20
AB Catania  acrofacial  dysostosis  was  reported  in  1993  as  a  “new”  form  of  a  most  likely  autosomal  dominant  inherited  acrofacial  dysostosis.  It  is  characterized  by  mild  intrauterine  growth  retardation  and  postnatal  short  stature,  severe  microcephaly  with  high  forehead,  malar  hypoplasia,  micrognathia,  mandibulofacial  dysostosis  with  high-arched  palate,  widow’s  peak,  and  mild  webbing  of  the  neck.  Mild  preaxial,  and  especially  more  conspicuous  postaxial  upper  limb  involvement  with  short  hands,  single  simian  creases,  and  mild  interdigital  webbing  seems  common.  Central  nervous  system  anomalies  can  include  mental  delay,  hypoplasia  of  the  corpus  callosum,  predominantly  frontal  cortical  brain  atrophy,  hypoplastic  cerebellar  vermis,  enlarged,  ☞Dandy-Walker-like  cisterna  magna,  syringomyelia,  thoracolumbar  scoliosis  with  lumbar  spina  bifida  occulta,  and  tethered  cord.  Hearing  loss,  hair  anomalies,  extensive  cavities,  genitourinary  (mainly  hypospadias,  cryptorchidism,  neurogenic  bladder),  and  gastrointestinal  (inguinal  hernias)  anomalies  have  also  been  reported.  The  overall  phenotype  of  this  form  of  acrofacial  dysostosis  is  rather  mild  and  difficult  airway  management  and  peripheral  vascular  access  should  be  less  likely  to  occur  in  these  patients.  The  same  anesthetic  concerns  and  pharmacologic  implications  as  described  here  for  acrofacial  dysostosis  Weyers  Type  would  apply,  although  cardiac  defects  have  not  been  described  in  Catania  Type  patients.