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 | ||
Scoliosis | |||
Eyes | Severe hypermetropia | Severe hypermetropia | |
Other | Hypothyroidism | Hypothyroidism | |
Recurrent pneumothoraces | |||
Patellar luxations | |||
Hoarse voice |