Paternal uniparental disomy 14: introducing the "coat-hanger" sign.

Abstract:

:Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the "coat-hanger" configuration of the ribs on the chest radiograph), suggested a diagnosis of patUPD14, which was confirmed following DNA analysis. The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Offiah AC,Cornette L,Hall CM

doi

10.1007/s00247-003-0931-8

keywords:

subject

Has Abstract

pub_date

2003-07-01 00:00:00

pages

509-12

issue

7

eissn

0301-0449

issn

1432-1998

journal_volume

33

pub_type

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