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Many organ systems are affected by triploidy, but the central nervous system and skeleton are the most severely affected: . Common central nervous system defects seen in triploidy include holoprosencephaly, hydrocephalus (increased amount of cerebrospinal fluid within the brain), ventriculomegaly, Arnold–Chiari malformation, agenesis of the corpus callosum and neural tube defects.
The use of the term "Arnold–Chiari malformation" has fallen somewhat out of favor over time, although it is used to refer to the type II malformation. Current sources use "Chiari malformation" to describe its four specific types, reserving the term "Arnold–Chiari" for type II only. [51] Some sources still use "Arnold–Chiari" for all four ...
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 ...
A congenital malformation is a physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome. [citation needed] Some conditions are due to abnormal tissue development:
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 ...
In cases of pregnancy, patients with Ehlers–Danlos syndrome are more likely to experience complications during parturition. [77] Post-partum hemorrhage and maternal injury such as sporadic pelvic displacement, hip dislocation , torn and stretched ligaments, and skin tearing can all be linked to altered structure of connective tissues.
Myelomeningocele is also associated with club foot deformity, and Arnold–Chiari malformation, necessitating a VP shunt placement. [32] [13] Toxins and conditions associated with MMC formation include: calcium-channel blockers, carbamazepine, cytochalasins, hyperthermia, and valproic acid. [15]
The Chiari malformation may be asymptomatic or present with ataxia, spasticity or abnormalities in breathing, swallowing or sleeping. [6] Due to the impaired venous outflow, which may be further complicated with an Arnold–Chiari malformation, there is often a clinical image of hydrocephalus present.
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