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Late Testicular Torsion
Joseph Junewick, MD FACR
over 9 years ago
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Reubenstein-Taybi Syndrome

Case Detail

Anatomy: Musculoskeletal
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: CR
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12 year old with mental retardation.

Case Images


Rubentstein-Taybi Syndrome


CR – The 1st distal phalanx is broad and triangular with a viper head appearance. The 1st proximal phalanx is deformed with radial inclination. The distal 1st metacarpal and 2nd through 5th distal phalanges are also broadened.


Rubenstein-Taybi syndrome is related to a defect on chromosome 16 or less commonly 22 and manifested by facial dysmorphism, mental retardation and broadening of the first digits.

Common radiologic manifestions of the hand include: 1) short and wide terminal phalanx of the thumbs, 2) “delta” deformity of the proximal phalanx causing angular deformity (hitchhiker’s thumb), 3) short, wide and tufted terminal phalanges, and 4) attempted terminal phalangeal duplication.


Poznanski AK. The Hand in Radiologic Diagnosis with Gamuts and Pattern Profiles. WB Saunders Co (1984).

Taybi H, Lachman RS. Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. Yearbook Medical Publishers.

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