RESUMEN
PURPOSE: Bilateral Lisch nodules are highly characteristic for neurofibromatosis type 1 (NF1). We wished to study the clinical and genetic implications of unilateral Lisch nodules. METHODS: Retrospective study of the clinical data of 59 patients who received genetic counselling for neurofibromatosis type 1 (NF1) or type 2 (NF2) and were examined at the department of ophthalmology. RESULTS: Unilateral Lisch nodules were observed in 4 cases: one child with NF1 initially presented unilateral Lisch nodules but developed bilateral Lisch nodules by the age of 9. In 2 cases segmental NF1 was the most probable diagnosis and in one case isolated Lisch nodules were observed. Of the 35 NF1 patients 28 ultimately developed bilateral Lisch nodules. Seven NF1 patients did not demonstrate the nodules. At follow-up no Lisch nodules were detected in 2 neurofibromatosis type 2 patients, in 4 patients in whom the diagnosis of NF1 remained doubtful and in 15 patients without NF1. CONCLUSION: Because isolated Lisch nodules are very rare, their presence warrants a thorough patient history and clinical examination to either confirm or exclude generalised or segmental neurofibromatosis type 1.
Asunto(s)
Oftalmopatías/diagnóstico , Oftalmopatías/genética , Hamartoma/diagnóstico , Hamartoma/genética , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 2/diagnóstico , Adulto , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico , Manchas Café con Leche/etiología , Niño , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Neurofibromatosis 1/complicaciones , Neurofibromatosis 2/complicaciones , Neuroma Acústico/complicaciones , Neuroma Acústico/diagnóstico , Estudios RetrospectivosRESUMEN
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.
Asunto(s)
Anomalías Múltiples/genética , Proteínas Portadoras/genética , Cara/anomalías , Pérdida Auditiva/genética , Deformidades Congénitas de las Extremidades/patología , Anomalías Múltiples/patología , Adulto , Bélgica , Niño , Preescolar , Codón sin Sentido/genética , Femenino , Deformidades Congénitas del Pie/patología , Deformidades Congénitas de la Mano/patología , Heterocigoto , Humanos , Masculino , Linaje , SíndromeRESUMEN
We report seven patients with the cerebro-costo-mandibular syndrome, a multiple congenital anomaly syndrome with, as the most distinctive features extreme micrognathia and abnormal rib development. Twice a parent to child transmission was found, compatible with autosomal dominant mode of inheritance. One of our patients presented with absence of the auditory canals and subluxation of the radial head, and another with choanal atresia, findings that have not been published previously. Longterm follow-up of some of the patients is described, and an overview of the literature is given.
Asunto(s)
Anomalías Múltiples/genética , Encéfalo/anomalías , Micrognatismo/genética , Costillas/anomalías , Adolescente , Adulto , Niño , Atresia de las Coanas/genética , Fisura del Paladar/genética , Conducto Auditivo Externo/anomalías , Femenino , Genes Dominantes , Pérdida Auditiva Conductiva/genética , Humanos , Lactante , Recién Nacido , Masculino , Radio (Anatomía)/anomalías , SíndromeRESUMEN
During two years all new patients referred to the cleft palate team in Nijmegen, were examined by a clinical dentist, to evaluate the occurrence of associated anomalies or syndromes. In 33% of the patients with all types of clefts associated anomalies were found. A percentage of 56% was found for cleft palate only, and of 14% for cleft lip (palate). It is important to make a classifying diagnosis of these associated anomalies because they may have important implications for recurrence risks and prognosis. The percentage of associated anomalies is the highest in the group of patients with cleft palate only or submucous clefts. Therefore, the dentists have to be aware of the presence of submucous clefts and their consequences.
Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Labio Leporino/diagnóstico , Labio Leporino/fisiopatología , Fisura del Paladar/diagnóstico , Fisura del Paladar/fisiopatología , Femenino , Pruebas Genéticas , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Estudios Retrospectivos , SíndromeRESUMEN
We report four cases with the unusual combination of lower limb ectrodactyly, congenital heart defect and a characteristic (albeit non-specific) facies. Because of the striking similarities between these cases we propose that they constitute a new association.
Asunto(s)
Anomalías Múltiples , Deformidades Congénitas del Pie/patología , Cardiopatías Congénitas/patología , Femenino , Humanos , Recién Nacido , Masculino , SíndromeRESUMEN
We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex.
Asunto(s)
Anomalías Múltiples , Enfermedades del Desarrollo Óseo/diagnóstico , Adolescente , Adulto , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Brasil , Asimetría Facial/diagnóstico , Femenino , Genitales Femeninos/anomalías , Síndrome de Goldenhar/diagnóstico , Humanos , Síndrome de Klippel-Feil/diagnóstico , Deformidades Congénitas de las Extremidades , Masculino , Fenotipo , RadiografíaRESUMEN
We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.