RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164060527
T1 Acrofacial Dysostosis, Palagonia Type (Palagonia 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 accesspediatrics.mhmedical.com/content.aspx?aid=1164060527
RD 2024/04/18
AB This  form  of  acrofacial  dysostosis  was  detected  in  the  same  village  as  the  original  acrofacial  dysostosis  Catania  Type  family  (both  in  Sicily,  Italy)  and  share  many  similar  features,  but  in  contrast  to  the  Catania  Type,  Palagonia  Type  patients  present  with  normal  intelligence  and  suffer  from  oligodontia,  but  not  extensive  cavities.  The  proposita  presented  with  normal  development,  short  stature,  pili  torti  with  low-posterior  hairline,  two  symmetrical  areas  of  aplasia  cutis  verticis  on  the  head,  prominent  forehead,  mild  downslanting  of  the  palpebral  fissures,  sparse  lateral  eyebrows,  lower  lid  ectropion  with  virtual  absence  of  lower  eyelashes,  malar  hypoplasia,  prominent  tip  of  the  nose,  micrognathia,  dental  anomalies  (oligo-/hypodentia),  and  low-set  and  posteriorly  rotated  auricles.  The  neck  was  short  with  a  large  atlas  (C1),  mild  scoliosis,  and  sacral  spina  bifida  occulta.  Two  of  the  siblings  (the  older  brother  and  the  younger  sister)  had  almost  identical  findings  (except  for  a  small  odontoid  process,  cleft  lip,  and  normal  hair  and  skin  in  the  brother).  Mild  cutaneous  syndactyly  of  digits  II-V  was  found  in  the  three  siblings  and  their  mother.  The  inheritance  pattern  is  most  likely  autosomal  dominant.  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  the  Palagonia  Type  patients.