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There have been only 14 reported individuals with lateral meningocele syndrome with 7 of those who have a molecularly confirmed diagnosis. [5] There is no specific treatment for this syndrome, but only supportive management including lateral spinal meningoceles, psychomotor development, musculoskeletal, and routine management.
10: Sparrow DB et al. 2008: 1: Caucasian Mediterranean child with hydrocephalus and myelomeningocele, shortened thorax, ectopic and stenotic anus, and talipes associated with SCDO-4 11: Çetinkaya M et al. 2008: 1: Male child born at 40 weeks of gestation with lumbosacral myelomeningocele. 12: Kansal R et al. 2011: 1
Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
Currarino syndrome has an autosomal dominant pattern of inheritance. The disorder is an autosomal dominant genetic trait [5] caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
If your symptoms persist for more than 10 days. If you experience difficulty breathing, develop a severe cough, notice thick green or yellow mucus, run a fever, and/or feel extremely fatigued.
Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Symptoms may include neurologic problems, hydrocephalus (cerebrospinal fluid accumulated in the brain), spastic quadriplegia (paralysis of the limbs), microcephaly (an abnormally small head), ataxia (uncoordinated muscle movement), developmental delay, vision problems, mental and growth retardation ...