Publications by authors named "Johanna Vázquez"

2 Publications

  • Page 1 of 1

Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

Am J Med Genet A 2013 Jun 1;161A(6):1470-4. Epub 2013 May 1.

Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.

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.
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http://dx.doi.org/10.1002/ajmg.a.35916DOI Listing
June 2013

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Am J Med Genet A 2011 Jul 27;155A(7):1716-20. Epub 2011 May 27.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome.
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http://dx.doi.org/10.1002/ajmg.a.34030DOI Listing
July 2011