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Nasopalpebral LipomaColoboma Syndrome
Arch Ophthalmol. 2000;118:1699-1701.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Nasopalpebral lipomacoloboma syndrome is an autosomal dominant syndrome characterized by congenital upper eyelid and nasopalpebral lipomas, upper and lower eyelid colobomas, telecanthus, and maxillary hypoplasia. Ours is the third report of this dysplasia-malformation syndrome and the first report in the ophthalmic literature.
This rare syndrome was first described in a Venezuelan family1 and later in a Turkish family.2 Our patient is the proband for the third family reported with this dysplasia-malformation syndrome and the first with reported computed tomographic findings.
Report of a Case
The patient was a full-term male newborn, born at 39 weeks gestation to a 36-year-old, gravida 2, para 2 mother. The patient's mother had received good prenatal care and denied tobacco, alcohol, or other drug use during her pregnancy. The patient was delivered via spontaneous vaginal delivery with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Oxygen was administered for 2 minutes following birth, after which . . . [Full Text of this Article] Comment
Corresponding author: David B. Lyon, MD, Department of Ophthalmology, The Eye Foundation of Kansas City, 2300 Holmes, Kansas City, MO 64108.
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