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Pierre Robin Sequence - Cleft Palate
- Welcome back and introductions
- Elicit parents main concerns
- Give overview of session agenda
- Trach - Any complications?
- Feeding - How is it going?
- Any recent illnesses, etc?
- Primary defect - hypoplasia/ retrognathia of the mandibular area
- Prior to 9th week of embryologic development
- Tongue is then posteriorly located
- Palatal shelves can not close properly
- Posterior region must grow over the tongue to midline
- Results in U-shaped cleft
Mode of inheritanceEdit
- Most cases are sporadic
- Familial cases have been reported
- X-linked and AD modes have also been suggested
- 1:30,000 live births
- Recurrence risk of CP: 3-5 % (jumps to 10-15% of 2nd child born with cleft)
(Classic Triad = micrognathia, CP & glossoptosis)
- Cleft Palate (U-shaped)
- Glossoptosis/ Macroglossia
- Tongues falls backward and downwards
- Airway obstruction
- Feeding problems
- May also have:
- Ocular abnormalities (esotropia, congenital glaucoma)
- Cardiac anomolies (ASD, PDA, VSD)
- Some ear and skeletal defects have been reported
Natural history and life spanEdit
- 30% mortality
- Prognosis good if they survive the respiratory issues
- Small jaw usually grows out during first two years
- Chromic ear infections may cause conductive hearing loss
- Prenatal diagnosis:
- Not yet reliable
- Level II ultrasound at 18-20 weeks
Surveillance, management and treatment optionsEdit
- Airway obstruction
- Affected children should be monitored closely hypoxia and apnea
- Nurse children in the prone position
- Surgery to improve breathing (glossopexy or tracheostomy)
- Cleft Palate
- Feeding: use soft nipple with wide opening or squeeze bottle
- Surgery to repair cleft (9-18 mos)
- Ear infections: PE tubes
- Work up should include: genetics consult, ophthalmologic eval, hearing eval, ENT eval, speech tx, and orthodontic eval
- Associated with numerous syndromes
- trisomy 18
- feeble cry, polyhydramnios with small placenta, renal and cardiac abnormalities, short palbebral fissures
- Stickler syndrome
- Up to 30% - 40%
- Includes micrognathia, maxillary hypoplasia, epicanthal fols, depressed nasal bridge, hypotonia, hyperextensible joints, myopia, cataracts, retinal detachment
- Up to 15%
- Includes small mouth and mandible, overlapping 3rd and 5th digits, hypoplasia of nails, scissoring of limbs
Support groups, financial and educational resourcesEdit
- Pierre Robin Network (www.pierrerobin.org) - internet support group of parents
- Wide Smiles, Inc. (www.widesmiles.org) - lots of info for parents
- The Cleft Palate Foundation (CPF) (www.cleftline.org) or 1-800-24-CLEFT (24 hrs)
- How is BCMH working for you? And Early Intervention?
- Any problems managing pt's care?
- Nursing at home?
- How have you been coping?
- Do you have any support/ family in the area?
- Smith's Recognizable patterns of Human Malformation, 5th Edition
- Developmental Defects and Syndromes
- The National Craniofacial Association (www.faces-cranio.org/Disord/PierreRobin.htm)
- Neonatology on the Web (www.neonatology.org/syllabus/pierre.robin.html)
The information in this outline was last updated in June 2003.
This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.