Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0032290 (aspiration pneumonia)
2,291 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An infant with oculocerebrocutaneous (Delleman) syndrome (1), only 26 cases of which have been reported (2), presented with focal alopecia of scalp, periorbital skin appendages, hypertrophy of the skin (Fig. 1A), left-sided orbital cyst, lid coloboma, cleft palate (Fig. 1B), neonatal seizures, cerebral hemiatrophy, multiple intracranial cystic spaces, and enlarged lateral ventricles. The anomalies often require multiple anesthetics for examination of the eye, drainage of the orbital cyst, repair of lid coloboma, enucleation of the eye, excision of skin tags, and repair of cleft palate. Although this infant's perioperative course was uneventful, he had significant preoperative problems, such as neonatal seizures and an episode of aspiration pneumonia. Because the Delleman syndrome is rare, this case is presented to illustrate possible anesthetic implications of the disease.
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PMID:Delleman syndrome: anesthetic implications. 972 26