Table 1.
Epidemiological, clinical, and radiological data for the studied patients
| Variable | n (%) |
|---|---|
| Age | |
| Range [mean] | 9 months–12 years [mean: 4.9 years] |
| Sex | |
| Male | 11 (45.8) |
| Female | 13 (54.2) |
| Gestational age | |
| Preterm | 3 (12.5) |
| Full term | 21 (87.5) |
| Family and perinatal history | |
| Consanguinity in families | 12/16 (75) |
| Other affected sibs | 14 (58.3) |
| Intrauterine growth retardation | 24 (100) |
| Meconium stained amniotic fluid | 2 (8.3) |
| Age of presentation (days) | |
| Range [mean] | 10–30 [17] |
| Presenting symptoms | |
| Apnea | 6 (25) |
| Convulsions | 11 (45.8) |
| Dysmorphic features | 7 (29.2) |
| Features | |
| Short stature | 24 (100) |
| Microcephaly | 24 (100) |
| Deep set eyes | 24 (100) |
| Blue sclera | 24 (100) |
| Large floppy ear lobule | 24 (100) |
| Small hand | 24 (100) |
| Small feet | 24 (100) |
| Mental retardation | 24 (100) |
| Medullary stenosis | 2 (8.3) |
| Ophthalmic manifestations | |
| Errors of refraction | 8 (33.3) |
| Retinal vascular tortuosity | 2 (8.3) |
| Strabismus | 9 (37.5) |
| Corneal opacities | 1 (4.2) |
| Laboratory findings | |
| Hypocalcemia | 24 (100) |
| Hypoparathyroidism | 24 (100) |
| Hypomagnesemia | 20 (83.3) |
| Genetic study | |
| Positive molecular findings | 24 (100) |
| Parental heterozygosity | 24 (100) |