Table 3 Clinical characteristics of the patients with BANDDOS
No. | Dysmorphic features (n = 7/17) | First symptoms | Infantile hypotonia (n = 3/11) | Developmental delay (n = 7/14) | Cognitive decline (n = 12/14) | Seizure (n = 9/16) | Optic nerve atrophy (n = 2/7) | Dysphagia (n = 9/12) | Speech disturbances (n = 13/15) | Spasticity/rigidity (n = 12/15) | Hyperactive tendon reflex (n = 11/14) | Pathological reflexes (n = 8/11) | Bone abnormalities (n = 13/17) | Tooth (n = 1/7) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | Osteopetrosis | N/R |
2 | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | N/R | Osteopetrosis | N/R |
3 | Long eyelashes, bilateral epicanthus, bulbous nose, sagging cheeks, tented upper lip, dysplastic ears, abnormal enamel in some of his teeth, narrow and bell-shaped thorax with pectus carinatum; joint restrictions at the elbows and ankle, and dorsal kyphosis | Multiple brain abnormalities, hypotonia and focal seizures in infancy | Yes | Yes, psychomotor retardation until 2.5 years old, than regression | Yes, early progressive decline | Yes | Yes | Yes | Yes, severe dysarhtria | Yes | Yes | N/R | Skeletal dysplasia (osteopetrosis spectrum) (dysosteosclerosis) | Abnormal enamel |
4 | Short limbs | Deterioration of vision due to the increased intra-crianial pressure | No | No | Yes, progressive decline in her 30s | No | Yes | No | Yes, progressive decline | Yes | Yes | Yes | Skeletal dysplasia (osteopetrosis spectrum) (dysosteosclerosis) | Normal |
5 | No | Developmental delay, intellectual disability | No | Yes, mild intellectual disability (IQ 73) | Yes, progressive decline | No | No | Yes | Yes, dysarthria | Yes | Yes | Yes | Skeletal dysplasia (osteopetrosis spectrum) (Pyle disease) | Normal |
6 | No | Hypotonia, seizures | Yes | Yes, intellectual disability (IQ 50) | Yes, progressive decline | Yes | No | Yes | Yes, dysarthria | Yes | Yes | Yes | Skeletal dysplasia (osteopetrosis spectrum) (Pyle disease) | Normal |
7 | No | N/R | N/R | N/R | Yes, progressive decline | Yes | N/R | Yes | Yes, dysarthria | Yes | Yes | Yes | Skeletal dysplasia (osteopetrosis spectrum) (Pyle disease) | N/R |
8 | No | N/R | N/R | N/R | Yes, progressive decline | Yes | N/R | Yes | Yes, dysarthria | Yes | Yes | Yes | Skeletal dysplasia (osteopetrosis spectrum) (Pyle disease) | N/R |
9 | No | N/R | N/R | N/R | Yes, progressive decline | Yes | N/R | Yes | Yes, dysarthria | Yes | Yes | Yes | Skeletal dysplasia (osteopetrosis spectrum) (Pyle disease) | N/R |
10 | Cranial asymmetry, flattened midface, depressed nasal bridge, deep palmar creases, bony prominences in the bilateral parietal skull | Diagnosed prenatally, born via primary cesarean section due to multiple fetal anomalies | Yes | Yes | N/R | Yes | N/R | Yes | N/R | Yes | No | N/R | Osteopetrosis | N/R |
11 | No | seizures, developmental regression | N/R | No | Yes, progressive decline since 12 years old | Yes | N/R | Yes | Yes, severe dysarhtria | N/R | Yes | N/R | No | N/R |
12 | Microcephaly, tall forehead, coarse facies, arched eyebrows, depressed nasal bridge, large protruding teeth and low set ears, | Encepalopathy | No | No | Yes, since 2 years old | N/R | N/R | N/R | Yes, since 2 years old | Yes | Yes | Yes | N/R | N/R |
13 | No | Walking on the toes | No | No | Yes | Yes | N/R | N/R | Yes, since 4 years old | Yes | N/R | N/R | N/R | N/R |
14 | Wide forehead, low posterior hairline, down slanting palpebral fissures, prominent nasal bridge, high-arched palate, and generalized joint laxity | Psychomotor develepmental delay | No | Yes | Yes, since 7 years old | No | N/R | N/R | Yes, dysarthria | Yes | Yes | No | Osteopetrosis, Erlenmeyer flask deformity | N/R |
15 | Dolichocephaly, hypertelorism, bilateral epicanthus | Respiratory distress after birth | N/R | Yes | N/R | No | N/R | N/R | Yes, dysarthria | No | N/R | N/R | Osteopetrosis | N/R |
16 | Mild ptosis, down slanting palpebral fissures, high arched palate, and prognathism | Psychomotor develepmental delay | N/R | Yes | N/R | No | N/R | N/R | N/R | N/R | N/R | N/R | Osteopetrosis, Erlenmeyer flask deformity | N/R |
17 | No | Gait change | No | No | Yes, since 10 years old | Yes | No | Yes | Yes, progressive decline | Yes | Yes | Yes | No | Normal |
18 | No | Psychiatric/depression | No | No | No | No | No | No | No | No | No | No | No | Normal |
19 | No | Asymptomatic | No | No | No | No | No | No | No | No | No | No | No | Normal |