Total: 2 |
|
PMID (PMCID) | ||
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10602117 |
FEMALE | Infant, Newborn |
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. | ||
Han XY, Wu SS, Conway DH, Pawel BR, Punnett HH, Martin RA, de Chadarevian JP. Am J Med Genet. 2000;90(1):45-8. |
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The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. | ||
8831133 |
MALE | Infant, Newborn |
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review. | ||
Frints SG, Schrander-Stumpel CT, Engelen JJ, Da Costa AJ, Fryns JP. Genet Couns. 1996;7(2):135-42. |
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The boy died from a complex cardiac defect (monoventricle, monoatrium and truncus arteriosus) in combination with a diaphragmatic hernia. |