ABSTRACT
Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.
Subject(s)
Adult , Child , Ectodermal Dysplasia/genetics , Female , Foot Deformities/genetics , Hair Diseases/genetics , Hand Deformities/genetics , Humans , Lacrimal Apparatus Diseases/genetics , Male , Syndrome , Tooth Abnormalities/geneticsSubject(s)
Hand Deformities/complications , Hand Deformities/etiology , Hand Deformities/genetics , Hand Deformities/rehabilitation , Hand Deformities/therapy , Monoamine Oxidase/anatomy & histology , Monoamine Oxidase/surgery , Hand Deformities/surgery , Hand Deformities/diagnosis , Monoamine Oxidase/physiology , Monoamine Oxidase/physiopathologyABSTRACT
Se presenta un caso de síndrome de Holt-Oram en una paciente de 27 años de edad, estudiada en el Servicio de Cardiología del Hospital San José de Bogotá, con todos los criterios diagnósticos consistentes en malformaciones esqueléticas en miembros superiores y cardiopatía congénita tipo comunicación interauricular ostium secundum. Se hace una revisión de la literatura con énfasis en la importancia de su diagnóstico y la consejeria genética en este tipo de patologia.