Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability
نویسندگان
چکیده
منابع مشابه
Congenital generalized lipodystrophy.
Clinical features of congenital generalized lipodystrophy, a rare disorder, first described by Zeigler include loss of subcutaneous fat, hepatomegaly, increased bone growth, hyperlipaemia and, later, diabetes. The inheritance is probably autosomal recessive. Generalized lipodystrophy may involve the diencephalon. A probable defect in the hypothalamus may lead to increased levels of hypothalamic...
متن کامل[Congenital generalized lipodystrophy].
OBJECTIVE To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included mu...
متن کاملReversal of Degenerative Changes in Cervical Spine Following Bipolar Release in a Neglected Case of Congenital Muscular Torticollis
Congenital muscular torticollis (CMT) is a common cause of torticollis in children. Despite the ease in diagnosis in management, rare cases may be neglected and untreated which may not only impose cosmetic problems for the individual, but also affects the cervical spine with accelerated degeneration. Most patients with CMT can be managed non-surgically with medical and physical therapies, a...
متن کاملCardiac Manifestations of Congenital Generalized Lipodystrophy
IN BRIEF Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin resistance. This article focuses on the known cardiovascular manifestations of patients with congenital lipodystrophy, including cardiomyopathy, cardiac arrhythmias, and accelerated atherosclerosis arising from a m...
متن کاملThe status of the cervical spine in preschool children with a history of congenital muscular torticollis
Background: Infants with congenital muscular torticollis are born with an asymmetric range of motion and a muscular imbalance in the cervical spine, as a result of a shortening or excessive contraction of the sternocleidomastoid muscle. Purpose: The study aimed to investigate passive range of motion (PROM) for rotation and lateral flexion, and muscle function of the cervical spine in children t...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2008
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.32457