B/L RADIAL DYSPLASIA

 A

In a neonate with bilateral radial dysplasia (also called radial ray anomaly), the differential diagnosis (DDx) includes several syndromic and non-syndromic conditions. Here's a categorized list:

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🧠 Differential Diagnosis of Bilateral Radial Dysplasia in a Neonate

🔴 Hematologic Syndromes

• Fanconi Anemia

  • Progressive bone marrow failure

  • Café-au-lait spots, short stature, microcephaly

  • Usually presents later but radial anomalies may be present at birth

• Thrombocytopenia-Absent Radius (TAR) Syndrome

  • Bilateral absence of radius with thumb present

  • Associated with severe thrombocytopenia

  • Cow’s milk intolerance often seen

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🧬 Genetic/Syndromic Associations

• Holt-Oram Syndrome

  • Radial ray defects + cardiac anomalies (ASD, conduction defects)

  • Autosomal dominant

• VACTERL Association

  • Vertebral, Anal atresia, Cardiac, TracheoEsophageal fistula, Renal, Limb anomalies

  • Radial anomalies are common limb findings

• Nager Syndrome (Acrofacial Dysostosis)

  • Radial anomalies + facial abnormalities (malar hypoplasia, micrognathia)

• Fanconi Pseudo-Anemia / Roberts Syndrome

  • Severe limb and craniofacial malformations

  • Rare

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🧠 Other Considerations

• Environmental/Teratogenic Causes

  • Thalidomide exposure

  • Maternal diabetes

• Isolated/Idiopathic Radial Dysplasia

  • Can occur without syndromic features

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🧪 Next Steps in Workup

• CBC with platelets (rule out TAR)

• Echo (Holt-Oram, VACTERL)

• Renal ultrasound (VACTERL)

• Genetic testing (e.g., FANCA for Fanconi, RBM8A for TAR)

• Skeletal survey

• Family history and dysmorphology exam

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