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Holoprosencephaly


Presentation

  • This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months' follow-up are presented.[ncbi.nlm.nih.gov]
  • Here we present two new patients and review 30 patients from the literature with HPE and variants of agnathia.[ncbi.nlm.nih.gov]
  • More subtle facial dysmorphic features may also be present.[emedicine.com]
Plethora
  • These malformed fetuses present with a very bizarre morphology and a plethora of different malformations. However, all acardiac twins show either a complete absence or an anlage of the heart. Cerebral development is usually poor.[ncbi.nlm.nih.gov]
Blepharoptosis
  • We found that 9 of 10 patients had at least two ophthalmologic anomalies, including refractive errors, microcornea, microphthalmia, blepharoptosis, exotropia, and uveal coloboma.[ncbi.nlm.nih.gov]

Workup

  • 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]

Treatment

  • Treatment There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive. Treatment There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive.[ninds.nih.gov]
  • Management and treatment Treatment is symptomatic and supportive, and requires a multidisciplinary approach. Prognosis Prognosis depends on severity and the associated complications.[orpha.net]
  • Due to the poor prognosis, treatment of mid-face clefts in HPE patients have classically been addressed in a delayed fashion after 1-year of age.[ncbi.nlm.nih.gov]
  • The purposes of this paper were to: describe the clinical case of an 8-year-old boy with a permanent central incisor located at the midline in association with holoprosencephaly; and highlight the most important aspects related to diagnosis and treatment[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities. x Prognosis The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.[ninds.nih.gov]
  • Due to the poor prognosis, treatment of mid-face clefts in HPE patients have classically been addressed in a delayed fashion after 1-year of age.[ncbi.nlm.nih.gov]
  • Prognosis Prognosis depends on severity and the associated complications. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Identification of the cause of holoprosencephaly aids in establishing the prognosis and is essential to ascertain the mode of inheritance for adequate genetic counseling. Copyright 2017. Published by Elsevier B.V.[ncbi.nlm.nih.gov]

Etiology

  • Of unknown etiology, SMMCIS is characterized by the presence of a single central incisor located on the maxillary midline and may be associated with developmental defects and systemic alterations.[ncbi.nlm.nih.gov]
  • The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved. Holoprosencephaly results in early morbidity and mortality with a reduced survival beyond neonatal period.[ncbi.nlm.nih.gov]
  • Etiology The etiology is very heterogeneous: from chromosomal abnormalities (such as trisomy 13), known syndromes (such as Smith-Lemli-Opitz syndrome, Charge syndrome) (see these terms) to environmental factors (maternal diabetes or hypocholesterolemia[orpha.net]
  • Although these visceral anomalies may not be essential for the identification of HPS, clinicians should be aware of the presence of such characteristics in these patients to optimize management and help establish etiologies.[ncbi.nlm.nih.gov]
  • The etiologic hypotheses of Moebius syndrome are also discussed. Copyright 2010 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]

Epidemiology

  • Castilla, Clinical epidemiologic study of holoprosencephaly in South America, American Journal of Medical Genetics Part A, 143A, 24, (3088-3099), (2007). Jin S.[doi.org]
  • Brain embryology; the imaging characteristics, epidemiology, and embryology of HPE; and the more common associated anomalies, particularly those of the face ("the face predicts the brain") are reviewed.[ncbi.nlm.nih.gov]
  • 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]
  • Summary Epidemiology Prevalence is estimated to be 1/10,000 live and still births and 1/250 conceptuses. HPE has worldwide distribution.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Active research into the pathophysiology of holoprosencephaly has revealed multiple teratogenic and genetic causes (chromosomal and single gene); further genetic characterization is ongoing.[emedicine.medscape.com]
  • Pathophysiology A combination of genetic and environmental factors is thought to be responsible for the pathogenesis of holoprosencephaly.[emedicine.medscape.com]

Prevention

  • Currently, there are no effective preventive methods for HPE. Better understanding of the mechanisms of gene-environment interactions in HPE would provide avenues for such interventions. 2014 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • The knowledge gained from these fundamental studies provides the foundation for understanding how to develop new ways to treat, and potentially prevent, this disorder. View research on this topic. View studies being conducted about this condition.[brainfacts.org]
  • 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. ‎ Pagina 332 - Crane JP, LeFevre ML, Winborn RC, et al.[books.google.ro]
  • 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]

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