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Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and ...
Cole–Carpenter syndrome. Autosomal recessive pattern is the inheritance manner of this condition. Cole–Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The condition affects less than 10 people worldwide. [1] It is characterised by dysmorphic features and a tendency to fractures.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) was the most common cytogenetic abnormality found in a recent study using ultra-high resolution chromosomal microarray analysis optimized for neurodevelopmental disorders of 10,351 consecutive patients presenting for genetic laboratory testing who had autism spectrum disorders (ASD).
Rudolf Arthur Pfeiffer (30 March 1931 – 1 June 2012) was a German geneticist. He discovered Pfeiffer syndrome in 1964. [1] Pfeiffer was born in Saarbrücken, Germany, on 30 March 1931. [1] [2] He studied at the Universities of Vienna, Frankfurt, and Heidelberg. [1]
Tatton-Brown–Rahman syndrome. Tatton-Brown–Rahman syndrome (TBRS) is a rare overgrowth and intellectual disability syndrome caused by autosomal dominant mutations in the DNMT3A gene. [1] The syndrome was first recognized in 2014 by Katrina Tatton-Brown, Nazneen Rahman, and collaborators. [2]
Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971 [2] and Dr. Renata Laxova in 1972 [3] as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in ...
A small spike would be present in the gamma (γ) band in MGUS. Monoclonal gammopathy of undetermined significance ( MGUS) is a plasma cell dyscrasia in which plasma cells or other types of antibody-producing cells secrete a myeloma protein, i.e. an abnormal antibody, into the blood; this abnormal protein is usually found during standard ...