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Table 1 Clinical features of affected individuals

From: A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report

Case II-1 II-2 II-4
Gender Female Male Male
Age of death 10 months 21 days 25 days
Ethnicity Korean Korean Korean
Neonatal Profile
 Gestational period (weeks) 39+ 3 36+ 6 36+ 4
 Apgar score (5 min) 7 7 7
 Pregnancy course fetal distress fetal distress, C/S fetal distress, C/S
 Birth height (cm) 46 (5–10th percentile) 47.5 (10–25th percentile) 45 (3rd–5th percentile)
 Birth weight (g) 2250 (< 3rd percentile) 1960 (< 3rd percentile) 1780 (< 3rd percentile)
 Head circumference (cm) 29 (< 3rd percentile) 28 (< 3rd percentile) 27 (< 3rd percentile)
Renal Phenotypes
 Onset of nephrotic syndrome 8 days 1 day 1 day
 Renal biopsy (age) FSGS (2 weeks) NP NP
 Urinary tract abnormalities (−) (−) (−)
Neurological Features
 Brain MRI microcephaly
simplified gyral pattern
progressive brain atrophy
microcephaly
simplified gyral pattern
cerebellar hypoplasia
pontine hypoplasia
microcephaly
simplified gyral pattern
 Cerebellum atrophy (−) (−) (−)
 Others facial dysmorphism
hiatal hernia
gastric volvulus
facial dysmorphism
skeletal deformities
facial dysmorphism
  1. C/S Caesarean section, MRI magnetic resonance imaging, NP not performed