Paternal uniparental disomy 14: introducing the 'coat-hanger' sign

• Published in: Pediatric radiology Vol. 33; no. 7; pp. 509 - 512
• Main Authors: OFFIAH, Amaka C, CORNETTE, Luc, HALL, Christine M
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01.07.2003; Springer Nature B.V
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - genetics; Adult; Biological and medical sciences; Chromosomes, Human, Pair 14 - genetics; Cutis Laxa - congenital; Cutis Laxa - genetics; Delivery. Postpartum. Lactation; Disorders; Female; Gynecology. Andrology. Obstetrics; Humans; Infant, Newborn; Male; Medical sciences; Pregnancy; Radiography; Ribs - abnormalities; Ribs - diagnostic imaging; Uniparental Disomy - genetics; Human; Case study; Skin disease; Dysplasia; Uniparental disomy; Newborn; Diseases of the osteoarticular system; Cutis laxa; Rib(bone)
• ISSN: 0301-0449; 1432-1998
• DOI: 10.1007/s00247-003-0931-8

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.