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Joseph Junewick, MD FACR
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Reubenstein-Taybi Syndrome

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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History

12 year old with mental retardation.


Case Images


Diagnosis

Rubentstein-Taybi Syndrome

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.

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.

Reference

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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