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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report an 8-year-old child with
branchio-oculo-facial syndrome
. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild
ptosis
on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized.
...
PMID:Branchio-oculo-facial syndrome with the atresia of external ear. 1593 29
