Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?
نویسندگان
چکیده
We describe two sisters with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis.
منابع مشابه
Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report
Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...
متن کاملInsights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations
Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome. Here, we report on two sisters compound he...
متن کاملگزارش یک مورد سندرم مارفان همراه با دفورمیتیهای شدید اسکلتی با توارث اتوزوم مغلوب
A case of Marfan Syndrome with Severe Kyphoscoliosis in Recessive Autosomal from of Inheritance N. Tayebi [1] , M. tashakor [2] Received: 30/09/07 Sent for Revision: 23/04/08 Received Revised Manuscript: 15/07/08 Accepted: 23/08/08 Background and Objective: Marfan syndrome is known as an autosomal-dominant connective tissue disorder which affects the skeletal, ocular and cardiovas...
متن کاملBeals syndrome (Congenital contractural arachnodactly) with choroid plexus cyst
Beals syndrome or Congenital contractural arachnodactly (CCA) is an autosomal dominantly inherited connective tissue disorder caused by a mutation in FBN2 gene on chromosome 5q23 and is characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinna and muscular hypoplasia. Multiple joint contractures (especially finger joints), and crumpled ears in the abs...
متن کاملPathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyl...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 1 شماره
صفحات -
تاریخ انتشار 1989