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Ulcerative Colitis
Joseph Junewick, MD FACR
over 7 years ago
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Case History


12 year old with mental retardation.


Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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Reveal Findings

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.

Reveal Discussion

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.

Reveal Diagnosis

Rubentstein-Taybi Syndrome

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