Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

Raam, Manu S.; Solomon, Benjamin D.; Shalev, Stavit A.; Muenke, Maximilian

doi:10.1002/ajmg.c.30234

Cited by 20 publications

(13 citation statements)

References 27 publications

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“…Associated defects were described even in euploid HPE cases, which could mean that some syndromic HPEs without chromosome anomalies, or with cryptic anomalies [Bendavid et al, 2006a,b], are frequent enough to rise the rates of these defects among HPE cases. See Kauvar et al 2010, Keaton et al 2010, and Raam et al 2010 for reviews of HPE associated with agnathia, ectrodactyly, and craniosynostosis, respectively.…”

Section: Associated Unrelated Defectsmentioning

confidence: 99%

Epidemiology of holoprosencephaly: Prevalence and risk factors

Orioli

Castilla

2010

American J of Med Genetics Pt C

108

105

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The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. High lethality during the early stages of embryonic and fetal development makes HPE detection age dependent. By reviewing 21 HPE epidemiologic articles, the observed prevalence rate differences can be largely explained by the pregnancy outcome status of the studied cohort: livebirth, stillbirth, and terminations of pregnancy (TOPs): lower than 1 per 10,000 when live and still births were included, higher when TOPs were included, and between 40 and 50 per 10,000 in two classical Japanese studies on aborted embryos. The increasing secular trend observed in some studies probably resulted from an increasing use of prenatal sonography. Ethnic variations in birth prevalence rates (BPRs) could occur in HPE, but the available data are not very convincing. Higher BPRs were generally observed in the less favored minorities (Blacks, Hispanics, Pakistanis), suggesting a bias caused by a lower prenatal detection rate of HPE, and consequently less TOPs. Severe ear defects, as well as microstomia, were part of the spectrum of HPE. Non-craniofacial anomalies, more frequently associated with HPE than expected, were genital anomalies (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of great arteries (4%). The variable female predominance, found in different HPE studies, could also depend on the proportion of early conceptions in each study sample, as males are more likely to be lost through spontaneous abortions.

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Section: Associated Unrelated Defectsmentioning

confidence: 99%

Epidemiology of holoprosencephaly: Prevalence and risk factors

Orioli

Castilla

2010

American J of Med Genetics Pt C

108

105

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“…(2) Fonoaudióloga; Professora Associada do Departamento de Fonoaudiologia da Faculdade de Odontologia de Bauru da Universidade de São Paulo -FOB/USP, Bauru, São Paulo, Brasil. (3) Biólogo; Professor Titular de Anatomia e Fisiologia dos Órgãos da Audição e da Fala do Departamento de Fonoaudiologia da Universidade Estadual Paulista -UNESP -Marília; São Paulo, Brasil. (4) Fonoaudióloga; Professora Adjunta de Diagnóstico Fonoaudiológico do Departamento de Fonoaudiologia da Universidade Estadual Paulista -UNESP -Marília; São Paulo, Brasil.…”

Section: Descritoresunclassified

“…Refere-se, portanto, a um complexo de deformidades hemisféricas causadas por falha no desenvolvimento da vesícula prosencefálica. A HPE é considerada a malformação cerebral mais comum em humanos [2][3][4][5] .…”

Section: Introductionunclassified

Perfil de habilidades do desenvolvimento em crianças com holoprosencefalia e holoprosencefalia like

et al. 2011

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RESUMOObjetivo: investigar e comparar o desempenho nas habilidades relacionadas ao desenvolvimento motor, cognitivo, linguístico, de socialização e autocuidados de indivíduos com holoprosencefalia e com holoprosencefalia-like. Método: participaram deste estudo 20 indivíduos com diagnóstico de holoprosencefalia, na faixa etária de 18 a 72 meses, de ambos os sexos, divididos em 2 grupos. O grupo 1 (G1) composto por 12 indivíduos com sinais clínicos do espectro da holoprosencefalia, e o grupo 2 (G2) com holoprosencefalia-like composto por 8 indivíduos com sinais clínicos do espectro da holoprosencefalia-like. A coleta de dados foi realizada por meio da aplicação do Inventário Portage Operacionalizado que avalia as áreas alvos deste estudo. Para a análise estatística utilizou-se análise descritiva da mediana e dos valores mínimos e máximos e foi aplicado o teste estatístico de Mann Whitney (≤ 0,05% para significância). Resultados: os grupos 1 e 2 apresentaram alterações em todas as áreas do desenvolvimento avaliadas. Entretanto, os indivíduos do G1, com holoprosencefalia apresentaram maiores comprometimentos nas habilidades: motora, cognitiva, de linguagem, de socialização e autocuidados, quanto comparados aos indivíduos do G2, com holoprosencefalialike. Conclusão: o desempenho nas áreas motoras, cognitivas, de linguagem, de socialização e autocuidados de indivíduos com holoprosencefalia e holoprosencefalia-like foi aquém do esperado, principalmente naqueles indivíduos com holoprosencefalia, que se justifica pelo maior comprometimento no sistema nervoso central. A natureza destas alterações pode estar associada ao universo de alterações neurológicas e craniofaciais descritas nestes quadros clínicos e também à influência do ambiente social.

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“…In holoprosencephaly, this finding is due to the frontal bones being derived from the neural crest. Disturbed migration of the neural crest cells leads to abnormally accelerated growth of the frontal bones and to impaired cleavage of the forebrain and midline defects of the face, such as cyclopia and facial clefts [14,15] (fig. 11).…”

Section: Ultrasound In Craniosynostosismentioning

confidence: 99%

Prenatal Sonographic Diagnosis of Craniosynostosis

Schramm¹

2011

Craniosynostoses

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High-resolution and 3-dimensional ultrasound opens new possibilities for the examination of fetal bony structures. Prenatal ultrasound screening could potentially reveal most of the cases of craniosynostosis. Detailed expert examination allows for diagnosing most of syndromic and symptomatic cases. This study describes and discusses sonographic signs of craniosynostosis and typical findings in syndromic cases which are important for the indication of molecular genetic diagnosis.

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Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

Cited by 20 publications

References 27 publications

Epidemiology of holoprosencephaly: Prevalence and risk factors

Epidemiology of holoprosencephaly: Prevalence and risk factors

Perfil de habilidades do desenvolvimento em crianças com holoprosencefalia e holoprosencefalia like

Prenatal Sonographic Diagnosis of Craniosynostosis

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