RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164085264
T1 Simpson-Golabi-Behmel 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=1164085264
RD 2024/04/18
AB A  rare  X-linked  recessive  prenatal  and  postnatal  overgrowth  syndrome.  Clinical  features  include  abnormal  sacrum,  absent  nails/claws,  cleft  palate  most  often  associated  with  a  cleft  of  the  lower  lip,  coarse  facial  features,  macroglossia,  coloboma,  congenital  heart  defects  (ventricular  septal  defect,  atrial  septal  defect),  diaphragmatic  hernia,  hepatomegaly,  fusion  of  cervical  vertebra  and  limited  extension,  hydronephrosis,  intestinal  malrotation,  kidney  failure,  macrocephaly,  and  increased  risk  of  embryonal  cancers.