Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features.
نویسندگان
چکیده
Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi predisposing to basal cell carcinoma, odontogenic keratocysts, and skeletal malformations. Herein we report on an adolescent patient with Gorlin syndrome and coexisting congenital mirror movements. To our knowledge, this is the first patient in the literature who has both of these very rare conditions.
منابع مشابه
Treatment of the Mirror Foot with Central Ray Resection: Report of 2 Cases
The mirror foot is a rare congenital foot anomaly which is often associated with 6- to 8-toed polydactyly. Postaxial polydactyly is the most common form of this anomaly, while central polydactyly is seen infrequently. We report on 2 cases of the central mirror-foot anomaly. Calcaneus duplication and fibular hypoplasia were present in 1 case. We treated both patients by resecting the middle foot...
متن کاملConservative Management of Ovarian Fibroma in A Case of Gorlin-Goltz Syndrome Comorbid with Endometriosis
Ovarian fibromas are the most common benign solid ovarian tumors, which preoperative diagnosis often is difficult. Ovarian fibromas, especially in bilateral cases, may be representative of Gorlin syndrome.Gorlin syndrome (GS) is a rare autosomal dominant disorder with predisposition to basal cell carcinomas (BCCs) and other various benign and malignant tumors. To report a case of a young patien...
متن کاملCarpal Tunnel Syndrome in Association with Klippel-Trénaunay Syndrome: A Case Report
Klippel-Trénaunay syndrome is a rare congenital condition that rarely affects peripheral nerves. Median nerve involvement at carpal tunnel level has only been reported in a few occasions in the medial literature. A 61 years old Caucasian female patient with Klippel-Trénaunay syndrome presented with a 10 months history of paraesthesiae and numbness affecting the median nerve distribution area...
متن کاملEllis–van Creveld Syndrome in a 4-month-old Child: A Case Report
Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...
متن کاملSyndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
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:
- Pediatrics
دوره 137 3 شماره
صفحات -
تاریخ انتشار 2016