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Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia
Amanda Louise Griffiths1, Andrew Heggie, Sarah Holman
1Department of Respiratory Medicine, Royal Children's Hospital, Melbourne, Australia. mandie.griffiths@rch.org.au
Insights
Osteopathia striata with cranial sclerosis (OSCS) is a rare skeletal dysplasia. This report details a female infant with OSCS successfully treated for severe sleep apnea using mandibular distraction osteogenesis.
Area of Science:
- Genetics
- Skeletal Dysplasias
- Pediatric Medicine
Background:
- Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked skeletal dysplasia.
- It is characterized by bone abnormalities and extraskeletal anomalies.
- OSCS can present with features of Pierre Robin sequence.
Purpose of the Study:
- To report a case of OSCS in a female infant.
- To describe the successful management of severe obstructive sleep apnea in this patient.
- To highlight a novel treatment approach for OSCS-related complications.
Main Methods:
- Radiographic diagnosis of OSCS in an infant.
- Molecular confirmation of the genetic diagnosis.
- Surgical intervention with mandibular distraction osteogenesis for sleep apnea.
Main Results:
- The patient was diagnosed with OSCS in her first year of life.
- Severe obstructive sleep apnea was effectively treated with mandibular distraction osteogenesis.
- This represents the first reported use of this procedure for OSCS.
Conclusions:
- Mandibular distraction osteogenesis is a viable treatment for severe obstructive sleep apnea in infants with OSCS.
- Early diagnosis and intervention are crucial for managing OSCS-related complications.
- This case expands the understanding of OSCS management.
Abstract:
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extraskeletal anomalies. We report a female infant with OSCS diagnosed radiographically with molecular confirmation in the first year of life. The patient presented at 5 months with severe obstructive sleep apnea, which had progressed rapidly after the neonatal period and which responded favorably to mandibular distraction osteogenesis. This procedure has not previously been reported in association with OSCS, which is a rare cause of Pierre Robin sequence with dysmorphic features.
