The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia

American Journal of Medical Genetics
V B PenchaszadehR Arrivillaga

Abstract

We describe a new autosomal dominant dysplasia-malformation syndrome from eight affected individuals in three generations of a Venezuelan family. It is characterized by congenital symmetrical upper lid and nasopalpebral lipomas, bilateral symmetrical upper and lower palpebral colobomas located at the junction of the inner and middle thirds of the lids, telecanthus, and maxillary hypoplasia. Affected individuals have a broad forehead, window's peak, abnormal pattern of eyebrows and eyelashes, and maldevelopment of the lacrimal punctae. Interorbital distance is normal, but interpupillary distance is increased due to divergent strabismus originating from visual interference from inner canthal masses. Persistent epiphora, conjunctival hyperemia, and corneal (and less frequently lens) opacities are a secondary consequence of the defect of the lacrimal punctae and the inability to close the lids completely. The syndrome has complete penetrance and a rather narrow range of expressivity. The primary defect could involve a dysplasia of adipose tissue leading to nasopalpebral and upper lid lipomas during embryogenesis, with the rest of the malformations being secondary to interference of morphogenesis of the mid-upperface developmental f...Continue Reading

References

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Citations

Jun 6, 2009·Journal of Pediatric Ophthalmology and Strabismus·Ashok Kumar GroverVikas Menon
May 3, 2013·American Journal of Medical Genetics. Part a·Oscar F Chacon-CamachoJuan C Zenteno
Jun 1, 2005·British Journal of Plastic Surgery·Andrea SpanoEmilio Trabucchi
Apr 11, 2015·Aesthetic Plastic Surgery·Kashyap Komarraju TadisinaJames E Zins
May 20, 2016·Journal of Agricultural and Food Chemistry·Chao-Jie WangXuesong Yang
Apr 1, 1996·International Journal of Oral and Maxillofacial Surgery·M L Guion-AlmeidaM M Cohen
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Related Concepts

Multiple Congenital Anomalies
Congenital Ocular Coloboma (Disorder)
Craniofacial Dysostosis Type 1
Eyebrow Structure
Eyelid Neoplasms
Eyelid Structure
Genetic Conditions, Dominant
Lipomatosis
Maxilla
Genealogical Tree

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