Features | Our patient | All reported individuals | Estimated penetrance (%) |
---|---|---|---|
Craniofacial | |||
Micrognathia | Yes | 87/89 | 98 |
Small or dysplastic pinna(e) | Yes | 84/87 | 97 |
Malar hypoplasia | Yes | 78/84 | 93 |
Hearing loss | Yes | 69/83 | 83 |
Conductive | No | 32/51 | 63 |
Mixed | No | 13/51 | 25 |
Sensorineural | Yes | 7/51 | 12 |
Auditory atresia /stenosis | No | 47/73 | 64 |
Vestibular system abnormalities | No | 14/25 | 56 |
Ossicular abnormalities | No | 8/15 | 53 |
Facial asymmetry | No | 25/47 | 53 |
Preauricular tag(s) | No | 45/86 | 52 |
Cleft palate | No | 41/88 | 47 |
Choanal atresia | No | 27/83 | 33 |
Neonatal resuscitation | No | 14/46 | 30 |
Tracheostomy | No | 10/50 | 20 |
Limitation of mouth opening | Yes | 7/85 | 8 |
Extracranial | |||
Thumb anomalies | No | 24/77 | 31 |
Heart defects | No | 28/89 | 31 |
Esophageal atresia | No | 23/85 | 27 |
Renal malformation | No | 9/85 | 10 |
Development | |||
Developmental delay | Yes | 83/83 | 100 |
Microcephaly | Yes | 78/89 | 88 |
Congenital | No | 34/53 | 64 |
Postnatal | Yes | 19/53 | 36 |
Epileptic seizures | Yes | 21/77 | 27 |