Skip to main content

Table 1 Summary of patients’ symptoms

From: Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

   Patient 1
(18 years)
Patient 2
(15 years)
Gestational age   40 weeks 41 weeks
Anthropometry at birth Height 48 cm (3rd centile) 51 cm (10th centile)
  Weight 3310 g (25th centile) 3160 g (10th to 25th centile)
Anthropometry Height 156.5 cm (3 cm <3rd centile) 148.5 cm (6 cm <3rd centile)
  Weight 68.2 kg (50th centile) 49.2 kg (10. centile)
  Head circumference 59 cm (90th centile) 57.5 cm (75th to 90th centile)
Development Motor Delayed Delayed
  Speech Delayed
  Cognitive Delayed  
Craniofacial features   Big eyes, thin lips, deep set ears Thin lips, prominent forehead
Musculoscelettal   Joint hypermobility Joint hypermobility
   Flat, skew feet Flat, skew feet, crossing of 2nd and 3rd toe
Eyes   Severe hypermetropia Severe hypermetropia
Other   Hypothyroidism Hypothyroidism
   Recurrent pneumothoraces  
   Patellar luxations  
   Hoarse voice