A rare syndrome with unusual dental findings: Oculo-facio-cardio-dental syndrome
نویسندگان
چکیده
منابع مشابه
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.
We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital groovi...
متن کاملOculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnose...
متن کاملCerebro-oculo-facio-skeletal syndrome.
Cerebro-oculo-facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg. She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. G...
متن کاملCerebro-oculo-facio-skeletal syndrome
In this article, the author updates information on cerebro-oculo-facio-skeletal (COFS) syndrome. The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcifica...
متن کاملOculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance.
Oculo-facio-cardio-dental syndrome (OFCD) is an uncommon multiple congenital anomaly syndrome that is characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects, and dental anomalies including canine radiculomegaly and oligodontia. Although most cases of OFCD are sporadic, since all reported OFCD individuals have been female, it has been suggested...
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ژورنال
عنوان ژورنال: Journal of Oral and Maxillofacial Pathology
سال: 2014
ISSN: 0973-029X
DOI: 10.4103/0973-029x.140928