Spectrum of holoprosencephaly

Thakur, Seema; Singh, Renu; Pradhan, Manas Ranjan; Phadke, Shubha R.

doi:10.1007/bf02724118

Cited by 15 publications

(9 citation statements)

References 17 publications

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“…The more severe facial anomalies are, the more severe the brain anomalies are, but not vice versa. 9 In our study the alobar NPE presents with severe facial dysmorphia in 87% of cases. It affects more often females.…”

Section: Discussionsupporting

confidence: 51%

Fetopathological Aspects of Holoprosencephaly

Kitova

Masmoudi²,

Dorra³

et al. 2011

Folia Medica

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Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to fi nd ways of timely detection of this pathological condition. The present study AIMED at fi nding an association of holoprosencephaly with facial dysmorphia and anomalies of visceral organs that would alert the physician to be very careful in making the prenatal diagnosis, which may require termination of pregnancy by medical indications. MATERIAL AND METHODS

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Section: Discussionsupporting

confidence: 51%

Fetopathological Aspects of Holoprosencephaly

Kitova

Masmoudi²,

Dorra³

et al. 2011

Folia Medica

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“…There is a paucity of specific information regarding Indian patients with holoprosencephaly in the literature; the largest case series of Indian patients with holoprosencephaly consisted of 13 patients and was described in 2004 [5]. Nevertheless, the lack of such descriptions is not likely to be due to a reduced number of Indian patients with the condition.…”

Section: Epidemiology and Implicationsmentioning

confidence: 99%

Holoprosencephaly: A guide to diagnosis and clinical management

2011

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Context Holoprosencephaly affects 1 in 8,000 live births and is the most common structural anomaly of the developing forebrain, resulting in facial dysmorphism, neurologic impairment, and additional clinical sequelae. Given the increasing relative contribution of genetic diseases to perinatal morbidity and mortality in India, proper recognition and management of holoprosencephaly can improve care for a significant number of affected Indian children. Evidence Acquisition We used the PubMed database (search terms: “holoprosencephaly,” “HPE,” “holoprosencephaly India”) and cross-referenced articles regarding holoprosencephaly, using our research group’s extensive experience as a guide for identifying seminal papers in the field. Results Holoprosencephaly is classified into four types based on the nature of the brain malformations as seen on neuroimaging and/or pathologic examination, with typically recognizable craniofacial phenotypes. Despite the identification of several genetic loci and other etiologic agents involved in pathogenesis, additional causes are elusive. Moreover, satisfactory explanations for phenomena such as incomplete penetrance and variable expressivity are lacking. Conclusions For each patient, pediatricians should follow a diagnostic protocol including dysmorphology examination, complete family history and ascertainment of risk factors, and neuroimaging. Many medical issues, including hypothalamic dysfunction, endocrinologic dysfunction, motor impairment, respiratory issues, seizures, and hydrocephalus should be prioritized in management. Pediatricians should work with genetic specialists to identify syndromic forms and to perform cytogenetic investigation, molecular screening, and genetic counseling in order to fully characterize prognosis and recurrence risk.

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“…Of the different piercings in the mouth, MMLF piercing is also popular and can result in complications [9]. Other than that, absence of frenum is associated with Holoprosencephaly [10,11], whereas bifid frenum is associated with W syndrome [12].…”

Section: Introductionmentioning

confidence: 99%

Clinical Assessment of Frenum Morphology and Attachment in Malaysian Children

Pandiyan¹,

Hedge²

2018

Pesqui. bras. odontopediatria clín. integr.

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To determine the prevalence of various types and attachment level of maxillary frenum in Malaysian children. Material and Methods: A cross-sectional study was conducted in a total of 200 children of age ranging from 2 to 15 years. Photographs of maxillary frenum were taken and their types and level of attachment were recorded by using Placek's classification and modified Sewerin typology. Children were divided into 3 groups based on age: between 2-5, 6-11 and 12-15 years. Descriptive analysis was carried out to determine the frequency of frenum types and level of attachment. The relationship of frenal attachment with gender, and age were studied. Data collected was analyzed using descriptive statistics (frequencies, percentages, means and standard deviation). Statistical Package for Social Sciences (SPSS) version 19.0 was used to analyze the data. Results: The most common type was mucosal type of attachment (75%) and the least common was papillary penetrating (4.5%) based on Placek's classification whereas for modified Sewerin's typology, simple frenum (73%) was the most prevalent, followed by simple with nodule frenum (11.5%). There was no significant difference in the frenum attachment between the two genders. Mucosal and gingival attachment was significantly higher in older age group whereas papillary and papillary penetrating was higher in younger age group. Conclusion: This study showed that attachment of frenum in children changes according to age and whereas gender plays no role in portraying the difference. Hence, clinicians must be able to identify the different types of MMLF during dental examination to avoid any unnecessary surgical interventions particularly during the period of development.

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Spectrum of holoprosencephaly

Cited by 15 publications

References 17 publications

Fetopathological Aspects of Holoprosencephaly

Fetopathological Aspects of Holoprosencephaly

Holoprosencephaly: A guide to diagnosis and clinical management

Clinical Assessment of Frenum Morphology and Attachment in Malaysian Children

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