Open Access

Table 3

Genetic features and testing.

Case 1 Case 2 Case 3
Clinical features Hypotonia, single simian crease on right hand, micropenis and bifid scrotum. Family history of neonatal death with unknown cause. Hypotonia, almond shaped eyes, low set ears, widely spaced nipples, sandal gap deformity.
Biochemical markers Lactate: 28.7–33.8 mmol/L
Echocardiographic findings Large PDA with RVSP 49 + right atrial pressure, moderate tricuspid regurgitation. Large PDA, severe pulmonary hypertension with severely depressed biventricular function. Moderate PDA with RVSP 74 + right atrial – pressure, flattened septum, severe RV dilation.
Radiologic testing Brain MRI: Bilateral ventriculomegaly with interventricular hemorrhage. Abdominal X-ray suggestive of intestinal obstruction.
Encephalomalacia and gliosis of cerebral hemisphere. Chest CTA: Enlargement of main PA. Smaller left lung along with small left.
PA branches
Suspected diagnosis Unknown Electron transport chain deficiency Alveolar capillary dysplasia
Genetic testing results FISH: 4 copies ofETV6 and 2 extra copies of short arm of chromosome 12. WES: 2 heterozygous mutations in the TYMP genes. WES: de novo heterogeneous Forkhead.
Box FI (FOXF1) deletion
Day of testing DOL 2 (prior to ECMO) DOL 2 DOL 1 and 8
Testing turn-around time 8 days 11 days 14 days

CTA, computed tomography arteriography; DOL, day of life; ECMO, extracorporeal membrane oxygenation; FISH, fluorescence in situ hybridization; MRI, magnetic resonance imaging; PA, pulmonary artery; PDA, patent ductus arteriosus; RV, right ventricle; RVSP, right ventricular systolic pressure; WES, whole exome sequence.

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