نتایج جستجو برای: skeletal anomalies
تعداد نتایج: 142028 فیلتر نتایج به سال:
DOWN syndrome (DS) is the most common chromosomal disorder, occurring in 1 of every 600–800 births. It is characterized by mental retardation, as well as craniofacial, upper airway, cardiovascular, and gastrointestinal anomalies. One manifestation of DS relevant to anesthesiologists is upper cervical spine instability produced by ligamentous laxity, skeletal anomalies, or both. This instability...
SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by m...
BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...
While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proxim...
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