Thus, the human homologue of the Bn gene and the present defective gene are not identical, suggesting that more than one gene on the X chromosome plays a role in the development of the neural tube. [ncbi.nlm.nih.gov]

Severe intellectual disability is present in 10–15% of these patients. [emedicine.medscape.com]

Download the presentation slides from the AIDS 2018 website. View details of this session on the AIDS 2018 website. [aidsmap.com]

Characteristics and outcomes of the births and demographic and pregnancy characteristics of the mothers are presented for the period 1998-2005. [aihw.gov.au]

These lesions are present in up to 43% of the general population 49, 50 and occur in a variety of locations. [pediatrics.aappublications.org]

• Developmental Delay

  delay, or developmental regression of unknown cause Families with several members affected by similar problems such as seizures, mental retardation, hypotonia (poor or decreased muscle tone), or peculiar features Infants born small for gestational age [medschool.lsuhsc.edu]

  delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction dysplasia Diffuse cerebral and cerebellar atrophy-intractable [se-atlas.de]

  It causes a webbed neck, short height, and heart problems but does not usually cause developmental delays. Ultrasound Exam: A test in which sound waves are used to examine internal structures. During pregnancy, it can be used to examine the fetus. [acog.org]

  It can also be affiliated with developmental delay, seizures, vision problems and weakness in the arms and legs. [babygaga.com]

  Smith of the University of Washington Medical School in Seattle found a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in children of alcoholic mothers, now called fetal [en.wikipedia.org]

• Multiple Congenital Anomalies

  congenital anomalies, or women with multiple miscarriages or stillbirths Children with hearing problems, developmental delay, or developmental regression of unknown cause Families with several members affected by similar problems such as seizures, mental [medschool.lsuhsc.edu]

  […] heart defect Family history of complex congenital heart disease Family history of congenital anomaly Family history of congenital anomaly of ear Family history of congenital ear anomaly Family history of congenital finish nephrosis Family history of [icd10data.com]

  Welch and Aterman (1984) classified congenital sacral anomalies into 4 distinct clinical types: (1) a nonfamilial type associated with maternal diabetes showing complete absence of the sacrum and lower vertebrae and multiple congenital anomalies; (2) [genome.jp]

  congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple sulfatase deficiency Multiple system atrophy Multiple system atrophy, cerebellar [se-atlas.de]

  In one case multiple congenital anomalies were seen in face like fusion of two eye balls.Cleft lip and cleft palate were noted in one case of encephalocele [Figure 3] a and b. [ijpmonline.org]

• Pathologist

  The pathologists and clinicians have a fascination to study these cases in detail. [ijpmonline.org]

• Sneezing

  It is often passed to a pregnant woman from a child who is infected but is not showing symptoms; for example, an infected child may sneeze and then touch a pregnant woman, thus infecting her. [encyclopedia.com]

• Aspiration

  In utero treatment The in utero treatment is limited to fluid aspiration for instance in bladder hypertrophy secondary to an urethral valve, and in some thoracic or abdominal fluid collections. [atlasgeneticsoncology.org]

• Muscle Weakness

  Children born with congenital brain defects also may have: cardiovascular disorders gastrointestinal defects cleft lip and palate seizures head pain muscle weakness reduced vision bladder and bowel problems Several types of congenital brain defects are [healthline.com]

  Babies with the more severe forms of spina bifida often have muscle weakness in their feet, hips and legs that result in deformities that may be present at birth. Further X-rays of hips, legs and feet may be required. [patient.info]

  As the child ages, muscle weakness and gait disturbances may develop. A previously ambulatory child may regress, may experience running becoming more difficult, and might not keep up with other children during athletic activities. [pediatrics.aappublications.org]

  Hemophilia, a condition that prevents blood from clotting, and Duchenne muscular dystrophy, which causes muscle weakness, are carried on the X chromosome. [encyclopedia.com]

• Brachydactyly

  […] anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly [se-atlas.de]

• Urinary Retention

  Clinical Synopsis: INHERITANCE: Autosomal dominant ABDOMEN: [Gastrointestinal]; Constipation due to mass effect of meningocele GENITOURINARY: [Bladder]; Urinary retention due to mass effect of meningocele; Increased urinary frequency; Neurogenic bladder [genome.jp]

  […] tract infection is the predominant sign in an affected infant, but urinary retention is occasionally seen. 77 Once a child is toilet trained, the onset of secondary urinary incontinence, especially in conjunction with fecal incontinence and/or constipation [pediatrics.aappublications.org]

• Meningism

  Only the bone is affected and the spinal cord and meninges are unaffected. [merckmanuals.com]

  Meningitis Some newborn babies with myelomeningocele may develop meningitis, an infection in the lining of the brain and spinal cord (meninges). Meningitis may cause brain injury and can be life-threatening. [patient.info]

  Sometimes the split in the spine is large enough to cause the meninges to protrude from the baby's back, but the spinal cord stays in place. This is called meningocele. [study.com]

  Spinal DSTs present clinically in 1 of 5 ways: (1) the presence of a cutaneous tract; (2) a CNS infection, such as meningitis or intraspinal abscess; (3) aseptic meningitis resulting from desquamation of epithelial cells from an associated dermoid or [pediatrics.aappublications.org]

  The sac is lined by the meninges, the tissue that surrounds the brain and the spinal cord. Myelomeningocele is one of the most common and most severe form of spina bifida. [medindia.net]

Neural Tube Defects in the Neonatal Period Workup. Available online at http://emedicine.medscape.com/article/1825866-workup. Accessed July 30, 2014. Facts about anecephaly. Centers for Disease Control and Prevention. [labtestsonline.it]

Isolated coccygeal dimples do not require further workup or treatment. FIGURE 9 Benign coccygeal dimple within the gluteal cleft and overlying the tip of the coccyx. [pediatrics.aappublications.org]

Once we've approved your claim, you'll get the private treatment you need. 3 And we’ll pay for treatment After you've been treated, send us your invoices. [aviva.co.uk]

[…] either a dolutegravir- or an efavirenz-based regimen over the next five years in 3.5 million women who will be on treatment (1.8 million starting treatment over this period). [aidsmap.com]

Treatment - Anencephaly and spina bifida X-linked Not supplied. Resources - Anencephaly and spina bifida X-linked [checkorphan.org]

Spina Bifida: Treatment depends on the type and severity of spina bifida. Most children with mild form of the disorder need no treatment, although some may require surgery as they grow. [medindia.net]

Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]

Prognosis - Anencephaly and spina bifida X-linked Not supplied. Treatment - Anencephaly and spina bifida X-linked Not supplied. Resources - Anencephaly and spina bifida X-linked [checkorphan.org]

Shaer, Nancy Chescheir, Jay Schulkin, Myelomeningocele: A Review of the Epidemiology, Genetics, Risk Factors for Conception, Prenatal Diagnosis, and Prognosis for Affected Individuals, Obstetrical & Gynecological Survey, 2007, 62, 7, 471 CrossRef 8 Laura [onlinelibrary.wiley.com]

The most common NTD compatible with life and a positive prognosis is myelomeningocele (see the images below). Myelomeningocele in a newborn. The incidence of myelomeningocele is 1 case in 1200–1400 live births. [emedicine.medscape.com]

Outcome (prognosis) will depend on the type of spina bifida and any permanent damage to the spinal cord or brain. Some people with spina bifida will have severe physical disability and learning difficulties. [patient.info]

We discuss the possible differential diagnoses and etiological factors. Key words: Recurrent congenital hydrocephalus, Neural tube defect, Periconceptional folic acid Advertisement Journal of Apitherapy SUBMIT YOUR ARTICLE NOW [scopemed.org]

Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. (Kyoto). 2006;46:55-67. Xiao CG. [rarediseases.org]

Epidemiologic and etiologic aspects, American Journal of Medical Genetics, 1987, 26, 4, 783 Wiley Online Library 20 Niecee Singer, Steven Gersen, Dorothy Warburton, The value of chromosome analysis in cases of neural tube defects: A case of anencephaly [onlinelibrary.wiley.com]

Investigations into the etiology of neural tube defects. Birth Defects Res C Embryo Today 2004;72:330-44. 2. Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. [pediatricneurosciences.com]

Opitz, Associations and syndromes: Terminology in clinical genetics and birth defects epidemiology: Comments on Khoury, Moore, and Evans, American Journal of Medical Genetics, 1994, 49, 1, 14 Wiley Online Library 15 A. Plaja, T. Vendrell, E. [onlinelibrary.wiley.com]

Epidemiology of neural tube defects. In: Kiley M, editor. Reproductive and Perinatal Epidemiology. Boston: CRC Press; 1991. p. 251-336. 21. Elwood JM, Little J, Elwood JH. Epidemiology and Control of Neural Tube Defects. [pediatricneurosciences.com]

Epidemiology of the neural tube defects in Kashmir Valley. [surgicalneurologyint.com]

Blatter, BM Roelevelo, N Zielhuis, GA Mullaart, RA Gabreels, FJ ( 1996 ) Spina bifida and parental occupation Epidemiology 7 188 – 193. [cambridge.org]

Normal Embryology and the Pathophysiology of Spinal Cord Tethering Dysraphic CNS malformations arise during the second, third, and fourth weeks of human embryogenesis, generally referred to as the period of neurulation. [pediatrics.aappublications.org]

How can you prevent spina bifida? Spina bifida is best prevented by taking 400 micrograms (mcg) of folic acid every day. [americanpregnancy.org]

Birth Defects Studies National Birth Defects Prevention Study. [cdc.gov]

Prevention Program Scott D. Grosse, Lijing Ouyang, Julianne S. Collins, Denise Green, Jane H. Dean & Roger E. [nature.com]

[…] folic acid to prevent birth defects, Public Health Minister Steve Brine has announced today. [rcog.org.uk]

Adult HIV Breast Care Child and Adolescent Care for Community Health Workers Child Healthcare Childhood HIV Childhood TB Congenital Disorders Ebola Prevention and Control Facilitator's Guide Fetal Heart Rate Handbook Infection Prevention and Control Intrapartum [ls.bettercare.co.za]