TY  - CHAP
M1  - Book, Section
TI  - van der Hoeve-Halbertsma-Waardenburg-Gualdi Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - It  is  a  rare  genetic  disorder  characterized  by  a  congenital  defect  involving  skin  pigmentation.  The  clinical  features  include  a  white  forelock,  vitiligo,  partial  or  total  heterochromic  irides,  pale  blue  eyes,  hyperplastic  broad  high  nasal  root,  lateral  displacement  of  the  medial  canthi  and  lacrimal  points,  hyperplasia  of  the  median  portion  of  the  eyebrows,  and  a  unilateral  deafness  that  is  present  in  15  to  20%  of  affected  persons.  The  congenital  deafness  represents  the  most  serious  complication  of  this  medical  condition.  Other  clinical  features  include  bone  fragility  as  seen  in  osteogenesis  imperfecta  and  Lobstein’s  disease.  Certain  other  structural  abnormalities  include  short  stature,  hyperflexibility  of  joints,  dental  anomalies,  laryngomalacia,  and  congenital  heart  defects.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164087350
ER  -