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Nasopalpebral lipoma–coloboma 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.
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 the patient did well on room air. Birth weight was 3.3 kg; birth length was 42.3 cm.
Bock-Kunz AL, Lyon DB, Singhal VK, Grin TR. Nasopalpebral Lipoma–Coloboma Syndrome. Arch Ophthalmol. 2000;118(12):1699–1701. doi:
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