Warkany syndrome

(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