Table 2.
Craniofacial and skeletal phenotypes of DGS/VCFS and Tbx1-null mice.
| DGS/VCFS | Tbx1-Null Mice | |
|---|---|---|
| Cranium | Dolichocephaly | Small cranium |
| Abnormal skull morphology | Hypoplastic parietal bone | |
| Malar flattening | Hypoplastic interparietal bone | |
| Long face | Unfused cranial sutures between frontal and parietal bones | |
| Temporal bone hypoplasia | ||
| Absent zygomatic arch | ||
| Abnormal zygomatic arch morphology | ||
| Cranial Base | Platybasia | Abnormal fusion of the basioccipital and basisphenoid bones |
| Basilar impression | Abnormal presphenoid bone morphology | |
| Abnormal basioccipital bone morphology | ||
| Palate | Cleft palate | Cleft palate |
| Submucous cleft palate | Submucous cleft palate | |
| Bifid uvula | Bifid uvula | |
| Highly arched palate | ||
| Velopharyngeal insufficiency | ||
| Mandible | Retrognathia | Absent mandibular coronoid process |
| Short mandible | Short mandible | |
| Micrognathia | Micrognathia | |
| Teeth | Enamel hypoplasia | Abnormal upper incisor morphology |
| Single central incisor | Absent upper incisors | |
| Small teeth | ||
| Abnormality of the dentition | ||
| Carious teeth | ||
| Muscles | Pharyngeal hypotonia | Absent masseter muscle |
| Absent pterygoid muscle | ||
| Absent temporalis muscle | ||
| Eyes | Hypertelorism/telecanthus | Hypertelorism |
| Downslanted palpebral fissures | ||
| Proptosis | ||
| Strabismus | ||
| Abnormal eyelid morphology | ||
| Epicanthus | ||
| Microphthalmia | ||
| External Ears | Small earlobe | Ear lobe hypoplasia |
| Low-set ears | Lowered ear position | |
| Abnormally folded pinna | Abnormal ear shape | |
| Preauricular pit | Absent outer ear | |
| Anotia | ||
| Middle and Inner Ears | Chronic otitis media | Abnormal middle ear ossicle morphology |
| Conductive hearing loss | Absent middle ear ossicles | |
| Sensorineural hearing loss | Abnormal stapes morphology | |
| Auditory canal stenosis | Abnormal incus morphology | |
| Pulsatile tympanic membrane | Abnormal malleus morphology | |
| Thickened tympanic membrane | Absent stapes | |
| Tympanic membrane retraction | Abnormal external auditory canal morphology | |
| Decreased tympanic ring size | ||
| Nose | Prominent nasal bridge | Short snout |
| Abnormal nasal morphology | ||
| Underdeveloped nasal alae | ||
| Choanal atresia | ||
| Throat | Abnormal thorax morphology | Small thyroid cartilage |
| Abnormality of the pharynx | Small cricoid cartilage | |
| Abnormal thyroid cartilage morphology | ||
| Pharynx hypoplasia | ||
| Hyoid bones | Delayed development of the hyoid bone | Hyoid bone hypoplasia |
| Invisible hyoid ossification center | Abnormal hyoid bone morphology | |
| Cervical spine | Dysmorphic C1 | Abnormal cervical atlas (C1) morphology |
| Anterior arch cleft of C1 | Absent arcus anterior of C1 | |
| Open posterior arch C1 | ||
| Fusion of C1–C2 | ||
| Fusion of C2–C3 | ||
| Upswept C2 lamina | ||
| Platyspondyly | ||
| Others | Short clavicle | |
| References | [14,15,16,17,18,19,20,21,22,23,24,25,26,27,28] | [6,7,8,9,10,29,30,31,32,33,34,35,36] |