Hepatoblastoma in an infant with paternal uniparental disomy 14.

Abstract

A 29-year-old primigravida developed polyhydramnios at 24 weeks of gestation, requiring six serial amnioreductions. In addition, prenatal ultrasound examinations revealed a fetus with small stomach pouch, small thorax, slightly shortened limbs, and skin edema; paternal uniparental disomy 14(upd(14)pat) phenotype was suspected. At 37 weeks, the patient delivered a 2558 g female infant with characteristic facial features, webbed neck, thoracic deformity, abdominal wall defect, skin edema, overlapping fingers, placentomegaly, and small thorax with 'coat-hanger' appearance of the ribs on chest X-ray. A phenotype consistent with upd(14)pat was confirmed by DNA analysis. Although the infant's condition was initially stable, hepatoblastoma was subsequently detected and right hepatectomy was performed on day 224. On day 382, the infant was discharged with in-home respiratory management.

• Authors: Mariko Horii, Hiroko Horiuchi, Mikio Momoeda, Machiko Nakagawa, Michio Hirata, Isao Kusakawa, Michiko Yamanaka
• Journal: Congenital anomalies (Congenit Anom (Kyoto)) Vol. 52 Issue 4 Pg. 219-20 (Dec 2012) ISSN: 1741-4520 [Electronic] Australia
• PMID: 23181499 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics)
• Adult
• Chromosomes, Human, Pair 14
• Female
• Hepatoblastoma (diagnostic imaging, genetics)
• Humans
• Infant
• Infant, Newborn
• Liver Neoplasms (diagnostic imaging, genetics)
• Pregnancy
• Radiography, Abdominal
• Radiography, Thoracic
• Uniparental Disomy