Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4.
Ophthalmic Genet
; 30(3): 136-41, 2009 Sep.
Article
en En
| MEDLINE
| ID: mdl-19941418
ABSTRACT
Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in conjunction with a few systemic conditions. We present the case of a patient with CGPRPE who also has microcephaly, intrauterine growth retardation, mild developmental delay, and deletions of 13q33.3-q34 and 11p15.4. We believe this represents a distinct syndrome in which CGPRPE and microcephaly are the predominant features and that the responsible gene possibly resides in one of the deleted chromosomal regions.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Retina
/
Cromosomas Humanos Par 11
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Cromosomas Humanos Par 13
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Deleción Cromosómica
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Epitelio Pigmentado de la Retina
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Microcefalia
Tipo de estudio:
Risk_factors_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
2009
Tipo del documento:
Article