| Characteristics . | Family 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 | ||||
| Characteristics . | Family 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.