TY  - CHAP
M1  - Book, Section
TI  - DOOR Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
Y1  - 2019
N1  - 
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - DOOR  is  an  acronym  standing  for  sensorineural  Deafness,  Onychodystrophy,  Osteodystrophy,  microcephaly,  and  global  developmental  Retardation.  This  medical  disorder  is  characterized  by  the  presence  of  sensorineural  deafness,  craniofacial  anomalies,  progressive  optic  nerve  blindness,  peripheral  polyneuropathy,  onychodystrophy,  triphalangeal  thumbs,  mental  retardation,  and  seizures.  Congenital  cardiac  defects  are  reported  in  20%  and  consist  of  patent  ductus  arteriosus,  atrial  and  ventricular  septal  defects.  The  majority  of  subjects  have  increased  levels  of  2-oxoglutarate  in  the  plasma  and  urine.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164068257
ER  -