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Hepatoblastoma in an infant with paternal uniparental disomy 14
Author(s) -
Horii Mariko,
Horiuchi Hiroko,
Momoeda Mikio,
Nakagawa Machiko,
Hirata Michio,
Kusakawa Isao,
Yamanaka Michiko
Publication year - 2012
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2012.00364.x
Subject(s) - medicine , polyhydramnios , hepatoblastoma , thorax (insect anatomy) , macrocephaly , uniparental disomy , rib cage , gestation , umbilical hernia , surgery , anatomy , pregnancy , pediatrics , hernia , karyotype , biology , biochemistry , genetics , gene , chromosome
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.