Radial Ray Malformation



Radial Ray Malformation


Janice L. B. Byrne, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Isolated


  • VACTERL Association


  • Trisomy 18


  • Diabetic Embryopathy


  • Syndromal


Less Common



  • Holt Oram Syndrome


  • Thrombocytopenia-Absent Radius Syndrome


  • Fanconi Anemia


  • Fetal Valproate Syndrome


Rare but Important



  • Cornelia de Lange Syndrome


  • Roberts Syndrome


  • Aase Syndrome


ESSENTIAL INFORMATION


Key Differential Diagnosis Issues



  • Is the anomaly unilateral or bilateral?


  • Is there radial or ulnar deviation of the wrist?



    • Direction of deviation will predict the particular bony abnormality of the forearm


  • Are there other skeletal anomalies present?


  • Are the thumbs present or absent?


  • Does the fetus move normally, or is there evidence of arthrogryposis of other joints?


  • Are there other structural anomalies?


  • Is there a relevant family history?


  • Is the fetus normally grown?


Helpful Clues for Common Diagnoses



  • Isolated



    • Unilateral or bilateral abnormality


    • Variable thumb defects including absence, triphalangeal, hypoplastic


  • VACTERL Association



    • Nonrandom association of defects, usually sporadic



      • Vertebral anomalies


      • Anorectal malformation


      • Cardiac defects


      • Tracheoesophageal fistula with esophageal atresia


      • Radial ray anomaly with or without thumb abnormality


      • Renal anomaly


    • Associated hydrocephalus (aqueductal stenosis) also reported and may be familial


  • Trisomy 18



    • Severe prenatal onset growth restriction


    • Multiple anomalies common including cardiac, gastrointestinal, central nervous system, skeletal


    • Bilateral radial ray defect, often discordant in severity


    • Thumbs may be absent or abnormal with radial hypoplasia/aplasia


  • Diabetic Embryopathy



    • Risk highest in poorly controlled diabetic


    • Multiple anomalies common including skeletal, cardiac, central nervous system, renal


    • Preaxial polydactyly


  • Syndromal



    • Radial ray defects found in many syndromes


    • May be seen with other structural anomalies without a unifying diagnosis


Helpful Clues for Less Common Diagnoses



  • Holt Oram Syndrome



    • Bilateral upper extremity defects with cardiac anomaly


    • Lower extremities uninvolved


    • Wide spectrum of upper extremity malformation



      • Radial aplasia, hypoplasia, phocomelia (10%)


      • Thumb: Absent, hypoplastic, triphalangeal, bifid


      • Asymmetry of defects, with those on the left more severe


      • Other anomalies of upper limbs common including narrow shoulders, clinodactyly, syndactyly, defects of ulna, humerus, clavicle, sternum


    • Range of cardiac defects; ventricular septal defect and atrial septal defect (secundum) most common



      • Conduction defects


  • Thrombocytopenia-Absent Radius Syndrome



    • Radial aplasia in 100%


    • Variable degrees of hypoplasia, absence of ulnae, humeri


    • Thumbs always present


    • Abnormal shoulders



    • Variable anomalies of the lower extremities in 50%


    • 1/4-1/3 with cardiac anomalies, predominantly atrial septal defect or tetralogy of Fallot


    • Hematologic abnormalities may be severe in early infancy


    • Autosomal recessive


    • Prenatal or postnatal diagnosis confirmed by inducible chromosomal breakage


  • Fanconi Anemia



    • Prenatal onset growth restriction, including microcephaly


    • Radial ray defect in half of cases


    • Varying degrees of thumb abnormality including hypoplasia, aplasia, triphalangeal, duplication


    • Renal anomalies


    • Hematologic abnormalities manifest in childhood


    • Autosomal recessive


  • Fetal Valproate Syndrome



    • Limb anomalies in 45-65%, including radial ray defects


    • Neural tube defect in 1-2%


    • Prenatal growth restriction


Helpful Clues for Rare Diagnoses



  • Cornelia de Lange Syndrome



    • Severe prenatal onset growth deficiency


    • Variable degrees of upper limb deficiency including oligodactyly, phocomelia, micromelia


    • Radial hypoplasia/aplasia with abnormal thumbs


    • Long philtrum with micrognathia seen on prenatal ultrasound


    • Other structural anomalies including cardiac anomalies and diaphragmatic hernia


  • Roberts Syndrome



    • Varying degrees of limb deficiency varying from tetra-amelia to tetraphocomelia to less severe limb reduction defects


    • Radial aplasia/hypoplasia in majority


    • Severe prenatal onset growth restriction with microcephaly


    • Cleft lip with or without cleft palate


    • Premature centromere separation in most cases confirms diagnosis


    • Autosomal recessive


  • Aase Syndrome



    • Radial hypoplasia, triphalangeal thumbs


    • Diamond-Blackfan anemia (pure red cell aplasia)


Other Essential Information

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Aug 10, 2016 | Posted by in OBSTETRICS | Comments Off on Radial Ray Malformation

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