Perrie Robin Syndrome transmitted by an autosomal dominant trait although in some cases, it may be due to intrauterine disease during the first trimester.
These is a delay in extension of the neck interfering c mandibular growth and prevents decent of the tongue in utero, thus causing left palate.
- Cleft palate (extremely wide)
- Hypoplasia of the mandible
- Glossoptosis (week tongue)
- Congenital dislocation of the hip and club foot.
- MR associated c either microcephaly or hydrocephalus.
- External ear cup shaped
Lowest because of hypoplastic mandible.
M/E cleft: absent and thickening of the stapes footplate and curd.
Inner ear:
- Abnormal communications b/w the middle and apical hens of the cochlea.
- Poorly developed modiolus
- Narrow internal auditory canal.
Audiogram shows Conductive Hearing Loss but in cases with inner ear abnormalities the hearing loss is mixed.
- The tongue may obstruct the airway which calls for skilled nursing.
- Appliances have been devised to hold the tongue forward and cradles in which infant are nursed belly-down.
- Mandibular growth usually catches up quite well.
