RESUMO
Polydactyly, also known as hyperdactyly, is a common congenital limb defect, which can present with various morphologic phenotypes. Apart from cosmetic and functional impairments, it can be the first indication of an underlying syndrome in the newborn. Usually, it follows an autosomal dominant pattern of inheritance with defects occurring in the anteroposterior patterning of limb development. Although many mutations have been discovered, teratogens have also been implicated in leading to this anomaly, thus making it of multifactorial origin. There are three polydactyly subtypes (radial, ulnar, and central), and treatment options depend on the underlying feature.
Assuntos
Dedos/anormalidades , Polidactilia , Dedos/embriologia , Marcadores Genéticos , Humanos , Recém-Nascido , Mutação , Polidactilia/diagnóstico , Polidactilia/embriologia , Polidactilia/genética , Polidactilia/terapia , SíndromeAssuntos
Síndrome de Bardet-Biedl/diagnóstico , Síndrome de Bardet-Biedl/genética , Polidactilia/diagnóstico , Polidactilia/genética , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética , Síndrome de Bardet-Biedl/terapia , Humanos , Polidactilia/terapia , Doenças Raras/diagnóstico , Doenças Raras/genética , Doenças Raras/terapia , Doenças Retinianas/terapiaAssuntos
Anus Imperfurado , Hamartoma , Hipopituitarismo , Doenças Hipotalâmicas , Faringe/anormalidades , Polidactilia , Anus Imperfurado/diagnóstico , Anus Imperfurado/genética , Anus Imperfurado/fisiopatologia , Anus Imperfurado/terapia , Diagnóstico Diferencial , Mutação da Fase de Leitura , Hamartoma/diagnóstico , Hamartoma/genética , Hamartoma/fisiopatologia , Hamartoma/terapia , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/genética , Hipopituitarismo/fisiopatologia , Hipopituitarismo/terapia , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/genética , Doenças Hipotalâmicas/fisiopatologia , Doenças Hipotalâmicas/terapia , Fatores de Transcrição Kruppel-Like/genética , Proteínas do Tecido Nervoso/genética , Polidactilia/diagnóstico , Polidactilia/genética , Polidactilia/fisiopatologia , Polidactilia/terapia , Prognóstico , Síndrome , Proteína Gli3 com Dedos de ZincoRESUMO
Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental retardation. Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot. His clinical course was different from typical patients with polydactyly, especially in the aspect of walking development. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia.
Assuntos
Polidactilia/terapia , Síndrome de Rubinstein-Taybi/terapia , Dedos do Pé/anormalidades , Pré-Escolar , Seguimentos , Humanos , Masculino , Síndrome de Rubinstein-Taybi/cirurgia , Dedos do Pé/cirurgia , CaminhadaRESUMO
Congenital anterolateral bowing of the lower leg usually is a symptom of (impending) fracture because of congenital pseudarthrosis. This article reports a case of anterolateral bowing of the lower leg that is characterized by spontaneous correction and combination with duplication of the hallux. A review of the literature showed 10 comparable cases. This article is the first report on the magnetic imaging of this entity and describes its differentiation from congenital pseudarthrosis.
Assuntos
Anormalidades Múltiplas/diagnóstico , Hallux/anormalidades , Polidactilia/diagnóstico , Tíbia/anormalidades , Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/terapia , Moldes Cirúrgicos , Diagnóstico Diferencial , Humanos , Recém-Nascido , Desigualdade de Membros Inferiores/etiologia , Imageamento por Ressonância Magnética , Masculino , Osteotomia , Polidactilia/classificação , Polidactilia/complicações , Polidactilia/embriologia , Polidactilia/terapia , Pseudoartrose/congênito , Pseudoartrose/diagnósticoRESUMO
The authors offer two unique case presentations of pedal polydactyly as well as a general discussion of this congenital anomaly. This presentation demonstrates how a common condition has very individualized treatment plans that are based on communication between the patient and the podiatric surgeon.
Assuntos
Polidactilia , Dedos do Pé/anormalidades , Adolescente , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polidactilia/classificação , Polidactilia/embriologia , Polidactilia/patologia , Polidactilia/terapiaRESUMO
A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.
