Table 2 Summary of clinical and radiologic features at diagnosis in non-lethal RS individuals
From: Natural history of non-lethal Raine syndrome during childhood
Pedigree number | Case I* | Case II* | Case III | Case IV | Case V | Case VI° | Case VII° |
|---|---|---|---|---|---|---|---|
Age at diagnosis | 12 yrs | 5 mo | 4 mo | 6 yrs | 2 mo | 17 yrs | 14 yrs |
Neurological features | |||||||
Developmental delay/Seizures | +/− | +/− | +/− | +/+ | −/+ | +/+ | +/− |
Hearing/vision impairment | +/+ | −/− | −/− | – | −/− | +/− | +/− |
Major features | |||||||
Midface hypoplasia/ Microcephaly | −/+ | +/ + | +/+ | +/+ | +/+ | +/− | +/+ |
Depressed nasal bridge/ Hypoplastic nose | −/− | +/+ | +/+ | +/+ | +/− | +/+ | +/+ |
Exophthalmos | – | + | + | – | + | + | + |
Minor features | |||||||
Low set ears | – | – | + | + | + | + | + |
Hypertelorism | + | – | + | + | + | + | + |
Gingival hypertrophy | – | – | + | – | – | + | + |
Dental malformations | + | – | + | – | – | + | + |
Limb malformations | + | – | – | + | – | + | + |
Radiologic features | |||||||
Bowing of long bones | – | – | – | – | + | – | – |
Signs of rickets | – | – | – | – | + | – | – |
Cerebral calcifications | + | + | – | – | + | + | – |
Osteosclerosis of skull | – | + | + | + | + | – | – |
Osteosclerosis of long bones | - | + | + | + | + | – | – |
Endocrinological features | |||||||
Short stature | + | – | + | – | + | – | – |
Hypophosphatemia | + | + | + | – | + | + | – |
Hypocalcemia | – | + | + | – | + | – | – |
Rickets | – | + | – | – | + | – | – |
25 OH Vitamin D deficiency | – | + | – | – | + | – | – |