Iniencephaly

Common Name(s)

Iniencephaly

Iniencephaly is a birth defect related to spina bifida, but with more severe consequences. The defect results in extreme backward bending of the head and distortion of the spine. Infants will have a highly shortened neck or no neck at all, along with a number of other symptoms. Iniencephalic infants typically do not live longer than a few hours. Diagnosis can be made during pregnancy or directly after birth. The defect has no known cause or cure, but disproportionately affects females.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Iniencephaly" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Iniencephaly" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Iniencephaly" returned 12 free, full-text research articles on human participants. First 3 results:

[An unexpected cause of face presentation: iniencephaly].
 

Author(s): Amira Ayachi, Mechaal Mourali

Journal:

 

Last Updated: 31 Dec 1969

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[Antenatal diagnosis of iniencephaly].
 

Author(s): Hanane Saadi, Abdelaziz Banani

Journal:

 

Last Updated: 31 Dec 1969

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Two iniencephaly cases born the same day in the same hospital of Cali, Colombia. Iniencephaly cluster?
 

Author(s): Wilmar Saldarriaga, Carolina Isaza De Lourido, Fabian Andres Ruiz Murcia

Journal:

 

Two patients with short and hyperextended neck, cervical meningocele and other birth defects, were born the same day at the same hospital, both died. The autopsy report and X-rays show iniencephaly's classic findings. Revision of clinical histories did not show consanguinity between ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Iniencephaly" returned 2 free, full-text review articles on human participants. First 3 results:

Prenatal diagnosis of iniencephaly.
 

Author(s): Chih-Ping Chen

Journal: Taiwan J Obstet Gynecol. 2007 Sep;46(3):199-208.

 

Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or ...

Last Updated: 31 Dec 1969

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[Iniencephaly: four cases and a review of the literature].
 

Author(s): C Jeanne-Pasquier, D Carles, E M Alberti, B Jacob

Journal: J Gynecol Obstet Biol Reprod (Paris). 2002 May;31(3):276-82.

 

Iniencephaly is a rare malformation of the base of the skull. The brain is involved and prognosis is almost invariably lethal. We identified 202 reports in the literature up through 2000. Ultrasound morphology explorations now provide the diagnosis making it possible to propose pregnancy ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.