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Table 1.
Clinical data
 CharacteristicsFamily A Family B (ref. Knoblauch) 
 P1 P2 P3  P4 P5 
Sex Female Male Male  Male Male 
Age at presentation Antenatal (22 GW) Day 1 Day 1  Antenatal Antenatal 
Born at GW Termination of pregnancy 30 5/7 31 2/7  37 32 
Timing of death 23 5/7 GW 1 wk 17 d  22 d 12 d 
Head circumference Small, no value 29 cm (+1 SD) 27.5 cm (0 SD)  33 cm (0 SD) 30.5 cm (+1 SD) 
Birth weight NA 1,600 g (−0 SD) 1,694 g (−0.5 SD)  2,300 g (−2 SD) 1,830 g (−1 SD) 
Respiratory distress NA + (no spontaneous respiration) + (ventilation within hours)  + (ventilation within hours) + (no spontaneous respiration) 
Seizures NA − (subclinical epileptic activity on EEG)  
Brain MRI Microcephaly BS, BG, CBL, IV, P hemorrhage P, CBL, BG hemorrhage  Massive cerebral hemorrhage Periventricular signal intensities due to multiple small hemorrhages 
SC, BG, and PV calcification No clear calcifications No clear calcifications  Enlarged lateral ventricles Septum pellucidum cyst, Cavum vergae, lack of gyration of temporal lobes, diminished gyration of parietal lobes  
Cortical destruction Normal gyration Cortical necrosis  Cerebellar hypoplasia  
  PV white matter abnormalities  Malformations BS and PF  
  Loss of white/gray matter demarcation  Brain CT: calcifications  
Thoracic x-ray NP Normal Normal  Axillary calcifications, thin ribs, metaphyseal bands of humerus Calcifications along M. sternocleidomastoideus, thin ribs 
Abdominal ultrasound NP Normal Ascites, abnormal renal cortex/parenchyma differentiation  NP Hepatomegaly, pleural effusions 
Cardiological examination NP PDA ASD type II, PDA,  NP NP 
Bradycardia Bradycardia,  
 Widening of right and left coronary artery  
Eye examination NP Normal Thinning of retinal vessels  NP Normal 
Blood hematology/ NA Thrombocytopenia, SGOT/SGPT/ammonia and lactate elevation  Thrombocytopenia, Thrombocytopenia 
chemistry SGOT/SGPT/ammonia and lactate elevation   Dyserythropoiesis on bone marrow aspiration 
 CharacteristicsFamily A Family B (ref. Knoblauch) 
 P1 P2 P3  P4 P5 
Sex Female Male Male  Male Male 
Age at presentation Antenatal (22 GW) Day 1 Day 1  Antenatal Antenatal 
Born at GW Termination of pregnancy 30 5/7 31 2/7  37 32 
Timing of death 23 5/7 GW 1 wk 17 d  22 d 12 d 
Head circumference Small, no value 29 cm (+1 SD) 27.5 cm (0 SD)  33 cm (0 SD) 30.5 cm (+1 SD) 
Birth weight NA 1,600 g (−0 SD) 1,694 g (−0.5 SD)  2,300 g (−2 SD) 1,830 g (−1 SD) 
Respiratory distress NA + (no spontaneous respiration) + (ventilation within hours)  + (ventilation within hours) + (no spontaneous respiration) 
Seizures NA − (subclinical epileptic activity on EEG)  
Brain MRI Microcephaly BS, BG, CBL, IV, P hemorrhage P, CBL, BG hemorrhage  Massive cerebral hemorrhage Periventricular signal intensities due to multiple small hemorrhages 
SC, BG, and PV calcification No clear calcifications No clear calcifications  Enlarged lateral ventricles Septum pellucidum cyst, Cavum vergae, lack of gyration of temporal lobes, diminished gyration of parietal lobes  
Cortical destruction Normal gyration Cortical necrosis  Cerebellar hypoplasia  
  PV white matter abnormalities  Malformations BS and PF  
  Loss of white/gray matter demarcation  Brain CT: calcifications  
Thoracic x-ray NP Normal Normal  Axillary calcifications, thin ribs, metaphyseal bands of humerus Calcifications along M. sternocleidomastoideus, thin ribs 
Abdominal ultrasound NP Normal Ascites, abnormal renal cortex/parenchyma differentiation  NP Hepatomegaly, pleural effusions 
Cardiological examination NP PDA ASD type II, PDA,  NP NP 
Bradycardia Bradycardia,  
 Widening of right and left coronary artery  
Eye examination NP Normal Thinning of retinal vessels  NP Normal 
Blood hematology/ NA Thrombocytopenia, SGOT/SGPT/ammonia and lactate elevation  Thrombocytopenia, Thrombocytopenia 
chemistry SGOT/SGPT/ammonia and lactate elevation   Dyserythropoiesis on bone marrow aspiration 

ASD, atrium septum defect; BG, basal ganglia; BS, brain stem; CBL, cerebellum; CT, computed tomography; GW, gestational week; IV, intraventricular; P, parenchymal; NA, not available; NP, not performed; PDA, persistent ductus arteriosus; PF, posterior fossa; PV, periventricular; SC, subcortical.

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