RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164080626
T1 Opitz-Frias Syndrome
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=1164080626
RD 2024/04/19
AB Genetic  disorder  characterized  by  craniofacial  anomalies,  ocular  hypertelorism,  cleft  lip  and  palate,  epicanthal  folds,  and  a  wide,  flat  nasal  bridge.  Affected  males  present  cryptorchidism,  bifid  scrotum,  and/or  hypospadias.  The  most  significant  anomalies  are  the  presence  of  cleft  in  the  larynx  and  trachea,  pulmonary  hypoplasia,  dysphagia,  and  respiratory  obstruction.  Hypoplasia  or  agenesis  of  the  corpus  callosum,  kidney  abnormalities,  cardiac  defects,  and  mental  retardation  have  been  reported.