RADIAL DYSPLASIA_APLASIA
Catherine C. Roberts, MD
DIFFERENTIAL DIAGNOSIS
Common
Fanconi Anemia
Holt-Oram Syndrome
Thrombocytopenia-Absent Radius (TAR) Syndrome
Less Common
Klippel Feil
VATER Association
Trisomy 18
Trisomy 13-15
Radioulnar Synostosis
Dyschondrosteosis
Rare but Important
Pseudothalidomide Syndrome
Thalidomide Embryopathy
Fetal Varicella Syndrome
Fetal Valproic Acid Exposure
Cornelia de Lange Syndrome
Radial Clubhand
Ulnar Clubhand
Mesomelic Dysplasias
Oculo-Auriculo-Vertebral Spectrum
Nail Patella Disease (Fong)
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
Radial hypoplasia, dysplasia, and aplasia are associated with many congenital syndromes and skeletal dysplasias
Forearm radiographs are often nonspecific
Helpful Clues for Diagnoses
Fanconi Anemia
Thumb aplasia or short metacarpal
Absent or malformed navicular
Brachydactyly, clinodactyly
Holt-Oram Syndrome
Brachydactyly, camptodactyly, and clinodactyly
Thumb aplasia or malformation ± triphalangeal thumb
Abnormal navicular ± fusion
Os centrale
Trisomy 18
Thumb aplasia or short metacarpal
Ulnar deviation of MCP joints
Clinodactyly, syndactyly
Trisomy 13-15
Polydactyly, clinodactyly
Triphalangeal thumb
Broad thumb distal phalanx
Dyschondrosteosis
Decreased carpal angle
Carpal fusion
Cone-shaped epiphyses
Cornelia de Lange Syndrome
Short, wide thumb metacarpal
Clinodactyly, brachydactyly
Volar-radial curvature of 5th digit distal phalanx (Kirner deformity)
Ulnar Clubhand
Aplasia or hypoplasia of ulna with radius deformity
Thumb present, absent 4th and 5th digits
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