2015, Number 2
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Revista Cubana de Obstetricia y Ginecología 2015; 41 (2)
Cerebro-óculo-nasal syndrome with prenatal diagnosis
Pachajoa H, Quintero JC
Language: Spanish
References: 5
Page:
PDF size: 110.13 Kb.
ABSTRACT
The cerebro-óculo-nasal syndrome is characterized by central nervous system abnormalities, ocular and nasal. The prevalence of this syndrome is very low, and has not yet identified the etiology of this condition. We report the case of a patient with suspected PJS cynical prenatal diagnosis by 2D and 3D ultrasound. A review of the literature of previously reported cases.
REFERENCES
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Richieri-Costa A, Guion-Almeida ML. Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause. Am J Med Genet 1993; 47:702-6.
Guion-Almeida ML, Kokitsu-Nakata NM, Richieri-Costa A. Clinical variability in cerebro–oculo–nasal syndrome: Report on two additional cases. Clin Dysmorphol 2000; 9:253-7.
Ribeiro LA, Murray JC, Richieri-Costa A. PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. Am. J. Med. Genet 2006; 140A:2584-6.
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