An 11-year-old girl with Treacher Collins Syndrome (TCS) presented to the clinic with her parents for respiratory distress and insomnia. The clinical examination revealed symmetrically underdeveloped zygomatic bones, depressed palpebral fissures with a partial absence of eyelashes in the lower eyelids. There was also mandibular hypoplasia. The patient’s tongue was protruding outside of her mouth, as she could not close her mouth due to mandibular micrognathia. There was posterior maxillary vertical hypoplasia, as well as a significantly increased occlusal plane angle. The external ear development was abnormal. 

 

Examination

After a radiological examination, mandibular distraction osteogenesis was planned. There were no surgical or neurological complications encountered during the operation. The patient was treated with cefamezin (500 mg, twice a day) and intramuscular diclofenac sodium (once a day) for one week. After distraction osteogenesis, the patient’s respiratory problems resolved. She was able to position her tongue in her mouth and could sleep comfortably. The patient was doing well at her one-year follow-up examination.

 

  • #dermatology
  • #general medicine
  • #general surgery

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Q1: What is the diagnosis of this case?
Central sleep apnoea syndrome
Asthma
Obstructive sleep apnoea syndrome
COPD