Presentation
We also studied the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. [ncbi.nlm.nih.gov]
On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are [icd10data.com]
Nor was the specific diagnosis made in the present case. Case Report Mrs. M. H., white, twenty-eight years old, patient of Drs. [doi.org]
Entire Body System
- Fishing
Interphase fluorescence in situ hybridization (FISH) was carried out for targeted aneuploidy analysis. This is fourth published report of chromosomal abnormality in iniencephaly. [ncbi.nlm.nih.gov]
Gastrointestinal
- Abdominal Pain
The baby was born to a 22-year-old mother, who presented with abdominal pain of 1 day duration. An ultrasound scan at that time showed multiple foetal anomalies and the pregnancy was terminated. A stillborn baby was delivered. [ncbi.nlm.nih.gov]
(Case 1) Click here to view Case 2 A 27-year-old female gravida 2, para 1 living 1 with 23 weeks of gestation presented to obstetrics department with a history of abdominal pain since a day. She gave a history of nonconsanguineous marriage. [ruralneuropractice.com]
Ears
- Low Set Ears
Small occipital encephalocele, low-set ears, and lordotic short spinal column [Figure 2] a-c]. Umbilical cord was unremarkable. [ruralneuropractice.com]
Iniencephaly may be associated with other malformations like encephalocoele, absence of mandible, cleft palate, diaphragmatic hernia, single umbilical artery, low set ear and hydramnios. [jpgmonline.com]
The facies included low-set ears with overfolded helices, proptosis, and large cheeks, nose, mouth, and tongue. The palate was highly arched, with deep grooves of the rafe. [journals.lww.com]
Skin
- Hirsutism
The skin of the back was hirsute. The facies included low-set ears with overfolded helices, proptosis, and large cheeks, nose, mouth, and tongue. The palate was highly arched, with deep grooves of the rafe. [journals.lww.com]
Face, Head & Neck
- Short Neck
The Klippel–Feil malformation complex is sometimes considered the mildest form of iniencephaly ( Bianchi et al., 2000 ), and consists of shortness of the neck with fusion of the cervical vertebrae. [journals.lww.com]
Neurologic
- Drop Attacks
He presented with some cerebellar and cranial nerve symptoms and new episodes of neck pain and drop attacks. Brain imaging confirmed progressive deformity of the brain stem, cerebellar herniation into the encephalocele sac and ventriculomegaly. [ncbi.nlm.nih.gov]
Treatment
[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.de]
Treatment There is no standard treatment for iniencephaly since most infants rarely live longer than a few hours. Medicine is based more on prevention using supplementation with folic acid. [ninds.nih.gov]
[…] for Holoprosencephaly Treatment is largely symptomatic. [healthcommunities.com]
Prognosis
Prognosis The prognosis for infants with iniencephaly is extremely poor. Newborns seldom survive much past childbirth. [ninds.nih.gov]
Prognosis for Infants with Holoprosencephaly Infants born with most forms of holoprosencephaly face a poor prognosis. Few who survive achieve significant mental development. [healthcommunities.com]
This abnormality's prognosis is thought to be dismal. [ncbi.nlm.nih.gov]
[…] cervicothoracic lordosis deficient (short) or fused cervical vertebrae variable deficit in occipital bone due the the head position, the fetal crown rump length may be lower than expected for gestational age may have concurrent polyhydramnios Treatment and prognosis [radiopaedia.org]
Etiology
Iniencephaly is a fatal, anatomic anomaly that lacks a direct etiology. However, multiple factors (i.e., medications, teratogens, nutrient deficiency, etc.) suggest a shared causation. [indiana.pure.elsevier.com]
A brief review of the literature regarding categorization of these malformations and as a discussion of the embryological basis for these lesions and possible etiologic factors are included. [ncbi.nlm.nih.gov]
Epidemiology
Iniencephaly is a rare neural tube defect resulting in the following features : occipital bone defect partial or total absence (rachischisis) of cervicothoracic vertebrae fixed fetal head retroflexion Epidemiology The estimated incidence is at ~0.1-10 [pacs.de]
Epidemiological studies have found an association of iniencephaly and/or anencephaly with exomphalos in 5.2% cases with slight female preponderance. [jemds.com]
Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations. Am J Med Genet. 1997;70:16–23 Saint-Hilaire IGBailliere Paris JB. Iniencephalus. [journals.lww.com]
Linguistic Variant - Portuguese, Brazil) 2015AB LNC-RU-RU (LOINC Linguistic Variant - Russian, Russia) 2015AB LNC-TR-TR (LOINC Linguistic Variant - Turkish, Turkey) 2015AB LNC-ZH-CN (LOINC Linguistic Variant - Chinese, China) 2015AB MCM (Glossary of Clinical Epidemiologic [doctor.am]
Epidemiological analysis of multisite closure failure of neural tube in humans. Am J Med Genet 1996; 66:64-68. [indianpediatrics.net]
Prevention
However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development Anencephaly [ Read More ] [icdlist.com]
Medicine is based more on prevention using supplementation with folic acid. [ninds.nih.gov]
The most important precaution is to prevent obstructed labor and maternal trauma due to corporal distortion of the fetus. Keywords: Anencephaly ; iniencephaly ; neural tube defect References [1] Loo CK, Freeman B, Stanford D. [degruyter.com]
Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Pagina 332 - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.ro]
Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. الصفحة 332 - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.com]