Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography.
نویسنده
چکیده
The occurrence of primary lymphoedema with distichiasis is well recognised, but that the form of lymphoedema appears restricted to bilateral hyperplasia, as defined by lymphography, has not been reported.
منابع مشابه
Lymphoedema-distichiasis syndrome.
To cite: Marques NS, Miranda A, Barros S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-213651 DESCRIPTION A 29-year-old woman with a history of renal cysts, hypertension and lymphoedema-distichiasis syndrome, was referred to ophthalmology, with bilateral blurred vision, hyperaemia and ocular pain, developed over months. The patient had no positive ...
متن کاملA new classification system for primary lymphatic dysplasias based on phenotype.
Traditional classification systems for lymphoedema are of limited use for the diagnosis of specific forms of primary lymphoedema. The understanding of primary lymphoedema has been impeded by confusing terminology and a tendency to simply divide patients into three categories based on the age of onset: lymphoedema congenita manifests at or shortly after birth, lymphoedema praecox is apparent bef...
متن کاملA Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis
BACKGROUND Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. PATIENTS AND METHODS Subjects from three gener...
متن کاملIdentification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
P rimary lymphoedema is oedema that occurs as a consequence of a failure of lymph drainage and arises from an intrinsic abnormality of the lymphatic system. Familial lymphoedema usually segregates as an autosomal dominant trait with reported variable expression and reduced penetrance. 3 Primary lymphoedema can be classified according to age of onset, at birth as primary congenital lymphoedema (...
متن کاملAnalysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.
INTRODUCTION Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal ext...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Journal of medical genetics
دوره 24 3 شماره
صفحات -
تاریخ انتشار 1987