نتایج جستجو برای: radial polydactyly
تعداد نتایج: 62619 فیلتر نتایج به سال:
McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmen...
CONTEXT Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) ...
The association of lethal neonatal dwarfism, narrow thorax, and polydactyly is well established in the older literature particularly from the syndromes described by Jeune and Ellis-Van Creveld.' There has been renewed interest in this subject and the classification of short rib polydactyly since Majewski et al. described the features of a lethal congenital syndrome characterised by short ribs a...
STUDY OBJECTIVES The aims were: (1) to compare the birth prevalence of malformations in different ethnic groups and (2) to explore the reasons for the ethnic variations found by examining birth prevalence in the offspring of matings between ethnic groups. DESIGN Analysis of data from a register of malformations and register of births. SETTING Birmingham, England. SUBJECTS A total of 432,7...
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of ...
A kindred of seven affected individuals in three generations is described with autosomal dominant inheritance of bilateral five-fingered hands, pedal polydactyly with syndactyly and agenesis of the tibia and of the lower end of the radius.
BACKGROUND This study describes the use of a bioabsorbable suture for skin suturing during surgery for lateral ray polydactyly followed by favorable postoperative outcome without the need for postoperative suture removal. METHODS A 5-0 Vicryl Rapide suture was used for skin suturing during surgery for lateral ray polydactyly in 9 children (mean age, 12.4 mo). Children were allowed to walk and...
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of female genitalia. Mutations in the MKKS gene have also been shown to cause some cases of Bardet-Biedl syndrome (BBS) which is characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormal...
During limb development, the spatio-temporal expression of sonic hedgehog (SHH) is driven by the Zone of polarizing activity Regulatory Sequence (ZRS), located 1 megabase upstream from SHH. Gain-of-function mutations of this enhancer, which cause ectopic expression of SHH, are known to be responsible for congenital limb malformations with variable expressivity, ranging from preaxial polydactyly...
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and...
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