Table 1. Clinical data
 CharacteristicsFamily A Family B (ref. Knoblauch) 
P1P2P3P4P5
SexFemaleMaleMaleMaleMale
Age at presentationAntenatal (22 GW)Day 1Day 1AntenatalAntenatal
Born at GWTermination of pregnancy30 5/731 2/73732
Timing of death23 5/7 GW1 wk17 d22 d12 d
Head circumferenceSmall, no value29 cm (+1 SD)27.5 cm (0 SD)33 cm (0 SD)30.5 cm (+1 SD)
Birth weightNA1,600 g (−0 SD)1,694 g (−0.5 SD)2,300 g (−2 SD)1,830 g (−1 SD)
Respiratory distressNA+ (no spontaneous respiration)+ (ventilation within hours)+ (ventilation within hours)+ (no spontaneous respiration)
SeizuresNA− (subclinical epileptic activity on EEG)+++
Brain MRIMicrocephalyBS, BG, CBL, IV, P hemorrhageP, CBL, BG hemorrhageMassive cerebral hemorrhagePeriventricular signal intensities due to multiple small hemorrhages
SC, BG, and PV calcificationNo clear calcificationsNo clear calcificationsEnlarged lateral ventriclesSeptum pellucidum cyst, Cavum vergae, lack of gyration of temporal lobes, diminished gyration of parietal lobes
Cortical destructionNormal gyrationCortical necrosisCerebellar hypoplasia
PV white matter abnormalitiesMalformations BS and PF
Loss of white/gray matter demarcationBrain CT: calcifications
Thoracic x-rayNPNormalNormalAxillary calcifications, thin ribs, metaphyseal bands of humerusCalcifications along M. sternocleidomastoideus, thin ribs
Abdominal ultrasoundNPNormalAscites, abnormal renal cortex/parenchyma differentiationNPHepatomegaly, pleural effusions
Cardiological examinationNPPDAASD type II, PDA,NPNP
BradycardiaBradycardia,
Widening of right and left coronary artery
Eye examinationNPNormalThinning of retinal vesselsNPNormal
Blood hematology/NAThrombocytopenia,SGOT/SGPT/ammonia and lactate elevationThrombocytopenia,Thrombocytopenia
chemistrySGOT/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.