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radial agenesis

radial aplasia

 

Etiology (Exemples)

-  X-linked radial aplasia
-  VATER association (VACTERL association)
-  Pallister-Hall syndrome
-  Cateye syndrome
-  Duane anomaly and thenar hypoplasia or Duane-radial ray syndrome or Okihiro syndrome (MIM.607323) (SALL4 mutations)
-  Fanconi syndrome (Fanconi anemia)
-  craniosynostosis with radial defects

-  hemifacial microsomia with radial defects (Goldenhar syndrome with radial defects) (MIM.141400)
-  IVIC syndrome (oculootoradial syndrome) (MIM.147750)
-  congenital posterior dislocation of radial heads (MIM.179200)
-  X-linked radial ray deficiency (MIM.300378)
-  radial apladia with cleft lip/palate (MIM.179400)
-  X-linked dominant syndrome of radioulnar synostosis and radial ray abnormalities with severe malformations in the male and milder features in females (MIM.300233)
-  radialrenal syndrome (MIM.179280)

Association

-  cleft lip/palate (MIM.179400)
-  renal anomalies (#6829604#)

See also

-  radial ray aplasia


Unilateral radial agenesis with club hand, short cubitus and thumb agenesis

Unilateral radial agenesis with club hand and thumb agenesis (20 weeks)

Radial aplasia in bilateral radial ray aplasia

Radial aplasia in bilateral radial ray aplasia

Radial aplasia in bilateral radial ray aplasia

Radial aplasia in bilateral radial ray aplasia

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