نتایج جستجو برای: polydactyly
تعداد نتایج: 1218 فیلتر نتایج به سال:
Polymetatarsia without polydactyly is very rare as an isolated malformation. This is a case presentation of a patient in whom circumstantially an extra metatarsal of different morphology was found in each foot at the level of the fourth intermetatarsal space. In the right foot, the heads of the fifth metatarsal and accessory metatarsal stay together to form a single metatarsophalangeal joint an...
The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate. An Indian neonate presented on day 1 of life (youngest in the literature to be reported) with combination of abnorma...
Ellis–van creveld syndrome is a rare autosomal recessive syndrome of the heart, skeleton and most of the ectodermal derivatives. It is caused due to genetic defects in the chromosome 4p16; it belongs to short rib-polydactyly group (SRP). It is characterized by short ribs, short limb, polydactyly, ectodermal dysplasia and congenital heart defects. The oral manifestation is one of the main charac...
INTRODUCTION A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There are no cases of Peters anomaly recorded in Africa according to a literature search. In addition, availab...
Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormalities and are frequently associated with polydactyly and multiorgan system involvement. SRPS are produced by mutations in genes that participate in the formation and function of primary cilia and usually res...
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous f...
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