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Nasopalpebral Lipoma‐Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case
Author(s) -
ChaconCamacho Oscar F.,
LopezMartinez Monica S.,
Vázquez Johanna,
NavaCastañeda Angel,
MartinBiasotti Fernando,
PiñaAguilar Raul E.,
IñiguezSoto Marisol,
AcostaGarcía Job,
Zenteno Juan C.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35916
Subject(s) - medicine , coloboma , lipoma , hypoplasia , eyelid , craniofacial , anatomy , radiological weapon , radiology , pathology , psychiatry
Nasopalpebral lipoma‐coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma‐coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma. © 2013 Wiley Periodicals, Inc.