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Childhood dementia is very often diagnosed late, misdiagnosed, or not diagnosed at all. [9] A correct diagnosis happens, on average, 2 years or more after symptoms become apparent. Additionally, children affected by childhood dementia are often misdiagnosed with: Autism [16] [9] [17] Developmental or intellectual delay [16] [9] ADHD [9] Others [9]
Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism. [1] Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3.
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3]
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ 3 ] The protein made by this gene forms type II collagen , a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous ).
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2]
Initially, Winfried Brachmann had described a similar patient in 1916. His report was based on the clinical and autopsy features of an infant who died of pneumonia at the age of 19 days. Cornelia de Lange probably overlooked his report because he concentrated on characteristics of the upper limbs and wrote on the facial symptoms less specifically.
Dwarfism is a condition of people and animals marked by unusually small size or short stature. [1] In humans, it is sometimes defined as an adult height of less than 147 centimetres (4 ft 10 in), regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft).
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia [3] and a head that appears large in comparison with the underdeveloped portions of the body.