Warkany syndrome
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(Trisomy 8 mosaic Trisomy C)
Given the mosaicism of the genetic anomaly, the diagnosis is often established late.
Clinical picture:
- psychomotor development retardation,
- a narrow trunk with widely spread nipples
- a dysmorphic facies: poorly expressive face, micrognathia, arched palate, broad forehead, large and malformed ears, eversed lips
- eye anomalies: microphthalmia, cataracts, corneal opacities
- heart abnormalities: ASD, VSD, abnormalities of the great vessels
- visceral anomalies: vesicoureteral reflux, hydronephrosis, jejunal duplication and gastric tumor
- bone anomalies: dysplasia or absence of patella, hemivertebrae with secondary kyphoscoliosis, spina bifida
- thick palmar and plantar creases
- agenesis of the corpus callosum
- sometimes factor VII deficiency
Anesthetic implications:
echocardiography, verify the hemostasis and renal function, risk of difficult intubation. Difficult venous access and positioning because of the contractures.
Updated September 2018