نتایج جستجو برای: skeletal malformation
تعداد نتایج: 112139 فیلتر نتایج به سال:
Pyle’s disease is a rare genetic skeletal disorder also known as Metaphyseal dysplasia. A case of 36 yrs old female with fracture supracondylar femur in Pyle’s disease is presented. She had mild facial dysmorphism, dental malformation & mild genu valgum. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphysis. The fracture supracondy...
In 2014, a published study based on dissections and skeletal examinations noted that 19:50 Thoroughbred horses had a congenital malformation of the 6th cervical vertebra (C6). In addition, it was found that in those 19 Thoroughbred horses expressing a congenital malformation of C6, 9 displayed a concurrent congenital malformation of the 7th cervical vertebra (C7). In this study, 3 Thoroughbred ...
The term Scheuthauer-Marie-Sainton syndrome is also known as cleidocranial dysplasia or dystosis and derived from ancient greek words cleido (collar bone), knanion (head) (abnormal formation). It an uncommon but well genetic skeletal condition autosomal dominant malformation affecting bones teeth. most common dental abnormalities in affected individuals are hypoplastic/ aplastic clavicles, open...
abstract we had two cases of female complicated anorectal and genital malformations which underwent total mobilization of all structures of perinea to midline. case1: a 6 month old female with skin covered bladder, pubic diastasis, ectopic anus, vagina, and urethra to the right side of median cleft and lipoma on the left side. closure of pubic diastasis with iliac osteotomy and double barrel si...
background: 49, xxxxy syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. the classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. case: a two month-old boy with intrauterine growth restriction (iugr) and low birth weight, facial dysmorphism, clinodactyly in feet...
The studies show that there are some embryonic malformation in maternal diabetic rats. This malformation may be manifestation in other embryonic organs such as skeletal cardiovascular or centeral nervus system. In this study the effects of the maternal hyperglicemia on the processes of embryonic evolution, during rat,s pregna...
Cornelia de Lange syndrome (CdLS) is a multisystem malformation syndrome. There is wide clinical variability in this disorder. This disorder is relatively uncommon and characterised by series of malformations which includes skeletal, craniofacial, gastrointestinal and cardiac malformations. The main clinical feature includes growth retardation, limb abnormalities, mental retardation, developmen...
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patie...
Aim. Congenital cystic adenomatoid lung malformation is a rare unilateral dysplasia of the lung. Three pathologic types are described in the literature: type I with cysts >2 cm, type II with cysts <1 cm, and type III with microcysts. The aim of this paper is to present a case of a fetus with congenital cystic adenomatoid lung malformation and discuss the necessity for pregnancy termination acco...
Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...
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