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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz syndrome; Bonnet ...
The syndrome is named for Franz Josef Kallmann, a German-American geneticist, who, along with colleagues, described three family clusters of the syndrome in a 1944 paper, thus confirming a heritable, genetic basis of the syndrome. The cases described by Kallmann et al. also exhibited colour blindness, with some additionally exhibiting mental ...
Signs and symptoms of this progressive disease tend to become more marked as the child ages. Later, the condition causes wrinkled skin, kidney failure, loss of eyesight, and atherosclerosis and other cardiovascular problems. [12] Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent.
NBC’s David Bloom died suddenly in 2003. The cause was pulmonary embolism as a result of deep vein thrombosis. What are DVT symptoms? How do you prevent DVT?
You’ve heard about ADHD in children , and you even recognize how important it is for kids’ and their families to spot and acknowledge it...
The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo-ocular reflex. The syndrome was initially described in 2004. [1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the ...