Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
作者： S Ohdo , H Madokoro , T Sonoda , K Hayakawa
DOI: 10.1136/JMG.23.3.242
关键词: Hypoplastic teeth 、 Heart septal defect 、 Blepharophimosis 、 Tooth Abnormality 、 Heart disease 、 Pediatrics 、 Internal medicine 、 Endocrinology 、 Medicine 、 Hypoplasia 、 Karyotype 、 Paternal Cousin
摘要: We report two sisters with mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. A female paternal cousin has the same anomalies, but without disease. The chromosomes of these patients are normal parents non-consanguineous.
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