Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0042961 (
volvulus
)
4,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pallister-Killian syndrome
(
PKS
) is a rare mosaic genetic disorder defined by the presence of isochromosome for the short arm of chromosome 12. The authors report 2 new cases of
PKS
with prenatal diagnosis of
tetrasomy 12p
made by cytogenetic study of amniocytes. Typical dysmorphic craniofacial features were noted postnatally. Both newborns were referred to a surgical department because of congenital anomalies requiring operative management. One had an imperforate anus with an anocutaneous fistula and underwent minor anorectoplasty on day 2 of life. The second newborn required emergency laparotomy because of malrotation with midgut
volvulus
. This is the first report of clinical manifestation of malrotation in a patient with
PKS
. The authors undertook a detailed review of reported to date cases of
PKS
with special emphasis on its surgical aspects.
...
PMID:Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects. 1855 13
