Visit Metagene.de!
Summary
SOTOS SYNDROME 1 SOTOS1
CEREBRAL GIGANTISM
117550
OMIM = Online Medalian Inheritance of Men
821
5q35.3
  • no specific treatment
  • symptomatic therapy
rare (>150 cases)
autosomal dominant
autosomal recessive
unknown
symptoms
Amino acids, plasma
atrial septal defect
behavior, abnormal or bizarre, confusion
behavior, anxiety
birthweight high (large for gestational age)
cutis laxa
dermatoglyphic abnormalities
downward slanting fissure (antimongoloid slant)
dysmorphism
high arched palate
hyperopia
hyperreflexia
hypertelorism
hypertrichosis
hypotonia
large hands/feet
learning disability
macrocephaly (large calvaria, >2 SD for age)
malignant tumor (Wilms)
mental retardation
nystagmus
prominent forehead
seizures
strabismus
ventricular septal defect
laboratory finding
CT, brain, abnormalities -
MRI, brain, abnormalities -
EEG abnormalities -
Glycine/valine ratio 0.830.83normal/decreasedplasma
Literature
Boles RGet al.Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of lifeJ Pediatr1326924-9331998
McCabe RBDisorders of glycerol metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101631-16521995
Greulich T,Vogelmeier CFAlpha-1-antitrypsin deficiency: increasing awareness and improving diagnosisTher Adv Respir Dis002015
Boles RGet al.Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of lifeJ Pediatr1326924-9331998
McCabe RBDisorders of glycerol metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101631-16521995
Vianey-Saban Cet al.Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patientsClin Chim Acta269043-621998
McElvaney NGDiagnosing +-ยช1-antitrypsin deficiency: how to improve the current algorithmEur Respir Rev2413552-572015
Tyni Tet al.Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutationCurr Eye Res170551-5591998