نتایج جستجو برای: skeletal malformation
تعداد نتایج: 112139 فیلتر نتایج به سال:
Purpose: Maternal type-1 diabetes during pregnancy causes an increased rate of malformation in fetuses.Many studies have demonstrated that an increase in the plasma level of free 02 radicals may increase the rate of abnormalities in the offspring of diabetic mothers. Because vitamin E is an active antioxidant, it may be able to decrease free 02 radicals and protect fetuses against congenital ma...
Congenital skeletal disorders comprise a heterogenous group of abnormalities of the bones related to their shape, growth and integrity. They are present at birth or become manifest during gestation causing abnormal development of the fetal skeleton that can be prenatally detected by ultrasonography. They make part of a large group of genetic skeletal disorders, formerly called constitutional di...
The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly recognized disorders and reflects new molecular and pathogenetic concepts. Criteria for inclusion of disorders were (1) significant skeletal involvement corresponding to the definition of skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malform...
Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancre...
Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma,...
Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects. Pulmonary malformation is not reported to belong to the spectrum of this condition. We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth. We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt...
A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skeletal, genital, and renal systems. There is no evidence for a maternal age effect.
Material and methods The inclusion criteria where: 1) High risk of evolution: family history and/or proven progressive 2) No significant pathological malformation of the spine; 3) Girl or boy; 4) Initial Cobb angle between 15° and 30°; 5) Risser 0, 1 or 2. Assessment of brace effectiveness included; 1) percentage of patients who have 5° or less curve progression and the percentage of patients w...
Myositis ossificans progressiva (MOP) is an autosomal dominant disorder. There is a progressive ectopic ossification and skeletal malformation, mainly in the connective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. A 38-year-old female patient was admitted to our department with progressive increase of the thigh. ...
Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de nov...
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