How is Pierre Robin syndrome transmitted? What are its clinical presentation?

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.

1. Cleft palate (extremely wide)
2. Hypoplasia of the mandible
3. Glossoptosis (week tongue)
4. Congenital dislocation of the hip and club foot.
5. MR associated c either microcephaly or hydrocephalus.
6. 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.

 

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