Table 1 Clinical characteristics of present and previously reported patients with mutations in KIAA0753.
From: Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 1 (Chevrier et al. 2016) | Patient 1 (Stephen et al. 2017) | Patient 2 (Stephen et al. 2017) | |
|---|---|---|---|---|---|---|---|
Clinical diagnosis | SKD + JBTS | SKD + JBTS | SKD + JBTS? | SRTD (fetus) | OFD | JBTS | JBTS |
Disproportionate short-limb short stature (HP:0008873) | + | + | + | + | NA | +* | +* |
Thoracic hypoplasia (HP:0005257) | + | + | + | + | NA | NA | NA |
Hands | Brachydactyly (HP:0001156) | Brachydactyly (HP:0001156) | Brachydactyly (HP:0001156) | Brachydactyly (HP:0001156) | Polydactyly (HP:0010442) | − | − |
Protuberant abdomen (HP:0001538) | + | − | + | + | NA | + | NA |
Flexion contracture (HP:0001371) | + | + | − | NA | NA | NA | NA |
Delayed gross motor development (HP:0002194) | + | + | + | NA | NA | − | + (borderline) |
Delayed speech and language development (HP:0000750) | + | + | + | NA | NA | + | + |
CNS anomalies | Vermis dysplasia (HP:0002334), MTS (HP:0002419), corpus callosum hypoplasia (HP:0007370), dilation of lateral ventricles (HP:0006956), small pituitary gland (HP:0012506) | Vermis dysplasia (HP:0002334), MTS (HP:0002419), corpus callosum hypoplasia (HP:0007370), dilation of lateral ventricles (HP:0006956), small pituitary gland (HP:0012506) | Computer tomography of head was unremarkable, MRI not performed | Ventriculomegaly (HP:0002119), vermis dysplasia (HP:0002334) | Vermis hypoplasia (HP:0001320), MTS (HP:0002419), corpus callosum aplasia (HP:0007370), dilation of lateral ventricles (HP:0006956) | Vermis dysplasia (HP:0002334) and hypoplasia (HP:0001320), MTS (HP:0002419), ectopic posterior pituitary (HP:0011755) | Vermis dysplasia (HP:0002334) and hypoplasia (HP:0001320), MTS (HP:0002419), small pituitary gland (HP:0012506) |
Craniofacial anomalies | Frontal bossing (HP:0002007), flat face (HP:0012368), depressed nasal bridge (HP:0005280), teeth hypoplasia (HP:0000685) | Frontal bossing (HP:0002007), flat face (HP:0012368), depressed nasal bridge (HP:0005280), teeth hypoplasia (HP:0000685) | Frontal bossing (HP:0002007), flat face (HP:0012368), low set ears (HP:0000369) | Wide nasal bridge (HP:0000431), low set, posteriorly rotated ears (right) (HP:0000368), short lingual frenulum (HP:0000200) | Flat face (HP:0012368), hypertelorism (HP:0000316), wide nasal bridge (HP:0000431), low set, posteriorly rotated ears (left) (HP:0000368), lobulated tongue (HP:0000180) | Flat face (HP:0012368), low set, posteriorly rotated ears (HP:0000368), oculomotor apraxia (HP:0000657) | Frontal bossing (HP:0002007), flat face (HP:0012368), low set, posteriorly rotated ears (HP:0000368), oculomotor apraxia (HP:0000657) |
Growth hormone deficiency (HP:0000824) | Lower limit | − | NA | NA | NA | + * | +* |
