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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 numberCase I*Case II*Case IIICase IVCase VCase VI°Case VII°
Age at diagnosis12 yrs5 mo4 mo6 yrs2 mo17 yrs14 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++
  1. mo months; yrs years +: present; −: absent; */° siblings