How Palliative Care changed a Child’s Life with a Very Rare Disease: A Case with Cerebrocostomandibular Syndrome
2018
Case Description: We present a 9-year-old female with Cerebrocostomandibular syndrome (CCMS), restrictive lung disease, chronic respiratory failure, failure to thrive, GERD, hearing loss, bilateral cholesteatoma and severe scoliosis, born at 31 weeks of gestational age via emergency C-section due to lack of fetal movement. Prenatal ultrasound was concerning for a cystic hygroma and micrognathia. NICU course was characterized by respiratory distress requiring intubation. Consistent with CCMS, physical findings significant for micrognathia, scapular and vertebral anomalies and rib dysplasia were noted as well as narrow external auditory canals and …
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