brachydactyly การใช้

• A unique feature in the syndrome is symmetric brachydactyly with long thumbs.
• Mutations in this particular gene cause synpolydactyly and Brachydactyly.
• Brachydactyly is a dominant genetic trait that is characterized by shortened fingers and shortened stature.
• Knees have metaphyseal widening and irregularity while hands have brachydactyly ( short fingers ) and proximal metacarpal rounding.
• The bulk of his research was regarding a hereditary conditions that primarily afflicts the hands of individuals, entitled Brachydactyly.
• Deletion of GPR35 gene may be responsible for brachydactyly mental retardation syndrome and is mutated in 2q37 monosomy and 2q37 deletion syndrome.
• The broadness and brachydactyly of the big toes in particular may give them a stunted, rounded and stub-like appearance.
• Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia / aplasia of distal phalanges and nails.
• By doing so he showed that the ratio of those with and without brachydactyly followed a pattern explained by Mendel s pattern of inheritance.
• However, in 2007, a 2-year-old girl was found with symptoms consistent with both brachydactyly type B and Cooks syndrome.
• Besides the Martin Bell syndrome, now known as the fragile X syndrome, Julia Bell's name is associated with five forms of brachydactyly.
• Unusually short fingers and toes ( brachydactyly ) are also common, and there may be some webbing or fusion between the digits ( syndactyly ).
• It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with mild hand involvement and more severe foot involvement.
• Holt Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand syndrome, Slovenian type are known to be autosomally dominant disorders.
• Fox has a form of brachydactyly called clubbed thumb, and has discussed her obsessive compulsive disorder ( OCD ), insecurities, self-harming, and has acknowledged that she has low self-esteem.
• In 1999, a pair of siblings was found with brachydactyly type B . Because the disorder primarily affected the nails and distal phalanges, the research group concluded that brachydactyly type B and Cooks syndrome are the same disorder.
• In 1999, a pair of siblings was found with brachydactyly type B . Because the disorder primarily affected the nails and distal phalanges, the research group concluded that brachydactyly type B and Cooks syndrome are the same disorder.
• In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.
• Approximately 50 % of affected children have abnormal findings at birth ( such as club foot or twisted metatarsals, cleft palate, inward curving fingers due to underdeveloped bones and brachydactyly, or ear swelling caused by injury during birth ).
• The most common symptoms of Nicolaides Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints and broad distal phalanges.