Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures.

Abstract:

:Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association. Chromosomal abnormality identified in this patient is consistent with trichorhinophalangeal syndrome type II with no unusual features. Although the nature of these bone cysts is unclear, they are one of the causes of the known increased fracture risk observed in this syndrome.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Konala P,Kiely N,Noakes C,Blair E,Cassar-Pullicino VN

doi

10.1007/s00247-017-3839-4

subject

Has Abstract

pub_date

2017-07-01 00:00:00

pages

1016-1021

issue

8

eissn

0301-0449

issn

1432-1998

pii

10.1007/s00247-017-3839-4

journal_volume

47

pub_type

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