The histological findings of proboscis, single lens and single ventricle with neural tissue remnants are presented. [ncbi.nlm.nih.gov]

[…] not associated with midline facial abnormalities no cortex present, or sometimes small islands of tissue severe hydrocephalus falx cerebri usually present, but may be absent due to severe long-standing hydrocephalus bilateral choroid plexus thalami not [radiopaedia.org]

• Fishing

  Chromosomal analysis using G- and C-banding techniques and fluorescence in situ hybridization (FISH) showed an apparent monocentric isochromosome. [ncbi.nlm.nih.gov]

• Atrial Septal Defect

  Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. [ncbi.nlm.nih.gov]

• Dysmorphic Face

  face with flattened nose, and the abdominal eventration that looked like an abdominal air bag on 3D volumetric reconstruction. [ncbi.nlm.nih.gov]

• Aspiration

  The clinical assessment was aspiration pneumonitis with background cleft lip, cleft palate, and midline abnormalities. Hematologic, blood chemistry, urinalysis parameters, as well as the random blood sugar were within normal limits. [mdcan-uath.org]

  Swallowing problems are common in the more severe forms, placing these children at risk for recurrent respiratory problems or chronic lung disease due to aspiration. Poor gastric emptying, gastroesophageal reflux, and constipation are common. [pubs.rsna.org]

• Diarrhea

  There are no associated vomiting or diarrhea and no history of seizure since birth. She was delivered at term through spontaneous vertex delivery. [mdcan-uath.org]

• Acrocyanosis

  We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomen, and acrocyanosis. [ncbi.nlm.nih.gov]

• Macroglossia

  […] diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia [ncbi.nlm.nih.gov]

• Fetal Disorder

  Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. [ncbi.nlm.nih.gov]

• Low Set Ears

  Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. [ncbi.nlm.nih.gov]

  Phenotypically, the fetus had a short neck, triangular face, low-set ears, small and protruded chin, hypotelorism, a single-nostril nose, and ogival palate (Fig. 7). [journals.lww.com]

• Frontal Bossing

  bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia, and cheilo/palatoschisis at birth. [ncbi.nlm.nih.gov]

• Neonatal Seizures

  The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood. [ncbi.nlm.nih.gov]

Acknowledgment I, sincerely thank all my staff and co-residents for their cooperation during the workup of this case report. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. References 1. [cjhr.org]

They may have neurodevelopmental issues. [11, 12, 13, 14, 15] Workup Prenatal diagnosis options include karyotype analysis, microarray testing, ultrasonography, and magnetic resonance imaging (MRI). [emedicine.medscape.com]

• Hyponatremia

  Secretion of inappropriate antidiuretic hormone syndrome (SIADH) is a disorder of fluid-electrolyte balance caused by the inability to suppress the secretion of antidiuretic hormone (ADH) resulting in the development of hyponatremia. [ncbi.nlm.nih.gov]

• Staphylococcus Aureus

  Blood culture yielded growth of Staphylococcus aureus sensitive to cefuroxime, cefixime, cephalexin, streptomycin, and erythromycin. [mdcan-uath.org]

[…] for Holoprosencephaly Treatment is largely symptomatic. [healthcommunities.com]

We report a newborn infant with AHP who had resistant SIADH refractory to treatment, to draw attention to the coexistence of these entities and to contribute to the literature with the management of this challenging condition. [ncbi.nlm.nih.gov]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]

Top of page Is there a treatment for holoprosencephaly? Each child has a unique degree of malformations. Treatment must be individualized, although common problems occur. In general, treatment is largely symptomatic and supportive. [genome.gov]

Treatment of hydrocephalus may improve developmental and functional outcomes and reduce irritability. Seizures/epilepsy - About 40% of children with HPE have epilepsy that requires treatment. [health.state.mn.us]

Early detection by the prenatal ultrasound examination is important because of poor prognosis of alobar holoprosencephaly. [ncbi.nlm.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]

Top of page What is the prognosis? The prognosis for individuals with the disorder depends on the severity of the brain and facial malformations and associated clinical complications. [genome.gov]

Top of the Page POSTNATAL The prognosis for holoprosencephaly depends on the severity of the lesion. There is a high attrition rate during pregnancy and many cases abort spontaneously. [perinatal.nhs.uk]

The etiology of the holoprosencephalies is heterogeneous and has been attributed to both environmental and genetic causes. [appliedradiology.com]

(Etiology) Nonsyndromic Holoprosencephaly can be caused by genetic mutations, in one or many genes, involved in brain and face development. [dovemed.com]

Cyclopia etiology is heterogeneous, with a prevalence of 1.05 in100,000 births. We report a case of cyclopia with sinoftalmia in a fetus of 21 weeks where… CONTINUE READING Figures and Topics from this paper. [semanticscholar.org]

Defective sterol metabolism leading to abnormalities in the sonic hedgehog ( SHH ) signaling pathway may have a role in its causation. [21, 22, 23, 24, 25] However, many genes besides SHH have also been associated with holoprosencephaly. [26] Etiology [emedicine.medscape.com]

In a large epidemiologic study, Croen et al found the prevalence of holoprosencephaly to be 1.2 per 10,000 live births and fetal deaths. [appliedradiology.com]

Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology. 1977 Dec. 16(3):261-72. [Medline]. Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: Prevalence and risk factors. [emedicine.medscape.com]

For a general discussion of epidemiology, clinical presentation and pathology, please refer to the article on holoprosencephaly. [radiopaedia.org]

Pathophysiology A combination of genetic and environmental factors is thought to be responsible for the pathogenesis of holoprosencephaly. [emedicine.medscape.com]

Prenatal diagnosis of HPE should include a biochemical examination to identify metabolic factors such as maternal diabetes, and preventive management should be considered in subsequent pregnancies to achieve good control of maternal diabetes. [ncbi.nlm.nih.gov]

Prevention Because the cause of holoprosencephaly (HPE) is poorly understood, there is no known method of prevention for the disorder. Infants born to diabetic mothers may have an increased risk of having HPE. [naturallivingcenter.net]

Currently, there are no specific methods or guidelines to prevent Nonsyndromic Holoprosencephaly genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy [dovemed.com]

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]

Holoprosencephaly Malpractice Though holoprosencephaly cannot be prevented at this time, it is detectable early on with prenatal ultrasounds. It can be seen as early as nine to 14 weeks, in some cases. [birthinjuryjustice.org]