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Other conditions sometimes causally associated with Chiari malformation include hydrocephalus, [49] syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders [42] such as Ehlers–Danlos syndrome [50] and Marfan syndrome. Chiari malformation is the most frequently used term for this set of conditions.
Luscan-Lumish syndrome is a rare condition characterized by overgrowth, macrocephaly, obesity, type I Chiari malformation, and language delays.It has been identified as an autosomal dominant genetic disorder and is associated with variants in the SETD2 gene.
Arnold–Chiari malformation, or simply "Chiari malformation", a malformation of the brain; Budd–Chiari syndrome, a disease with typical symptoms of abdominal pain, ascites and hepatomegaly caused by occlusion of the hepatic veins; Chiari–Frommel syndrome, an older term for hyperprolactinaemia with extended postpartum galactorrhea and ...
Dr. Rekate determined that Bobby has Chiari Malformation (CM)- a condition that causes structural defects in the cerebellum. The ligaments holding Bobby's head onto the spine were too loose ...
Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS: FGFR (any) Baller–Gerold syndrome (BGS) Short broad head, bulging eyes, flat forehead, poikiloderma, radial deformity with reduced number of digits, underdeveloped or missing thumb and radius, and growth retardation: RECQL4
Fetal surgery in utero before 26 weeks gestation has been performed with some hope that there is benefit to the outcome including a reduction in Arnold–Chiari malformation and thereby decreases the need for a ventriculoperitoneal shunt but the procedure is very high risk for both mother and baby and is considered extremely invasive with ...
The first major form relates to an abnormality of the brain called an Arnold–Chiari malformation or Chiari malformation. This is the most common cause of syringomyelia, where the anatomic abnormality, which may be due to a small posterior fossa, causes the lower part of the cerebellum to protrude from its normal location in the back of the ...
Arnold–Chiari malformation; B. Bannayan–Zonana syndrome; Bardet–Biedl syndrome; Barth syndrome; Basal-cell nevus syndrome; Beckwith–Wiedemann syndrome;
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