RESUMEN
Oculoectodermal syndrome (OES) is a very rare disorder with an unknown etiology and characterized by aplasia cutis congenita, epibulbar dermoid and hyperpigmentation areas on the skin. To the best of our knowledge, two cases of OES have been reported to date with recurrent giant cell granuloma in the jaw and one of them also had a non-ossified fibroma in the long bones. Herein, we report the second case with aplasia cutis congenita, epibulbar dermoid, hyperpigmentation along Blaschko lines and also giant cell granuloma in the jaw and non-ossified fibromas in the bones.
Asunto(s)
Neoplasias Óseas/patología , Quiste Dermoide/patología , Displasia Ectodérmica/patología , Fibroma/patología , Granuloma de Células Gigantes/patología , Preescolar , Clavícula/patología , Consanguinidad , Humanos , Húmero/patología , Maxilares/patología , MasculinoRESUMEN
We describe a one-year old girl, with a de novo segmental aneusomy due to the subtelomeric deletion of the long arm of chromosome 9, determined via fluorescence in situ hybridization technique. Common clinical findings of the 9q subtelomeric deletion syndrome are developmental delay, hypotonia, microcephaly and dysmorphic facial features especially including midface hypoplasia and low set ears. Sensorineural deafness, as a rare condition of the syndrome is also announced. Presented case with sensorineural deafness has most of the common clinical findings of the syndrome, except brachycephaly, downslanting palpebral fissures, synophrys, epicanthus and low set ears, and has also additional findings like microtia, asymmetric and simple ears, long curly eyelashes and fetal finger pads which are not reported previously.
Asunto(s)
Anomalías Múltiples/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Par 9/genética , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/diagnóstico , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Anomalías Múltiples/genética , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Microtia Congénita , Sordera/diagnóstico , Sordera/genética , Discapacidades del Desarrollo/genética , Oído/anomalías , Facies , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Hibridación Fluorescente in Situ/métodos , LactanteRESUMEN
BACKGROUND: Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish family with X-linked AS. We performed linkage analysis in this family and sequencing to identify the mutation in the proband whose disease was confirmed by renal biopsy. METHODS: After genomic DNAs extracted, linkage to the COL4A5 locus was examined using the 2B6 and 2B20, DXS1106, DXS1105 and COL4A5 markers. In addition, COL4A5 gene sequence analysis was performed in the proband. RESULTS: Genetic linkage analysis demonstrated co-segregation of the disease. Haplotype analysis showed that the same haplotype was carried by all affected males and obligatory carrier females. Mutation analysis of the proband has revealed a novel nonsense mutation (c.1135C>T; Gln379X) in exon 19 of the COL4A5 gene which may lead to a more severe phenotype in affected family members carrying this mutation. According to GenBank data base, this mutation has not been reported previously. CONCLUSION: Genetic testing identified a previously undescribed COL4A5 mutation as the cause of the disease.
