Holoprosencephaly in infants of diabetic mothers

Barr, Mason; Hanson, James W.; Currey, Kathleen M.; Sharp, S.E.; Toriello, Helga V.; Schmickel, Roy D.; Wilson, Golder N.

doi:10.1016/s0022-3476(83)80185-1

Cited by 198 publications

(107 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…For example, preconceptual diabetes (18), retinoic acid exposure (19), maternal alcohol consumption (20)(21)(22), and cholesterol synthesis inhibitors (23) can elicit HPE-like dysmorphologies. Exposure to the steroidal alkaloid cyclopamine can cause the most severe HPE phenotype of cyclopia, in addition to less severe manifestations of the syndrome such as facial clefting (24).…”

Section: Introductionmentioning

confidence: 99%

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes

Cordero

Marcucio²,

Hu³

et al. 2004

J. Clin. Invest.

113

131

View full text Add to dashboard Cite

One of the most perplexing questions in clinical genetics is why patients with identical gene mutations oftentimes exhibit radically different clinical features. This inconsistency between genotype and phenotype is illustrated in the malformation spectrum of holoprosencephaly (HPE). Family members carrying identical mutations in sonic hedgehog (SHH) can exhibit a variety of facial features ranging from cyclopia to subtle midline asymmetries. Such intrafamilial variability may arise from environmental factors acting in conjunction with gene mutations that collectively reduce SHH activity below a critical threshold. We undertook a series of experiments to test the hypothesis that modifying the activity of the SHH signaling pathway at discrete periods of embryonic development could account for the phenotypic spectrum of HPE. Exposing avian embryos to cyclopamine during critical periods of craniofacial development recreated a continuum of HPE-related defects. The craniofacial malformations included hypotelorism, midfacial hypoplasia, and facial clefting and were not the result of excessive crest cell apoptosis. Rather, they resulted from molecular reprogramming of an organizing center whose activity controls outgrowth and patterning of the mid and upper face. Collectively, these data reveal one mechanism by which the variable expressivity of a disorder such as HPE can be produced through temporal disruption of a single molecular pathway.

show abstract

Section: Introductionmentioning

confidence: 99%

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes

Cordero

Marcucio²,

Hu³

et al. 2004

J. Clin. Invest.

113

131

View full text Add to dashboard Cite

show abstract

“…Muitos autores relataram a presença de hipoplasia adrenal e tireoideana nesses pacientes 1,5 . Existem registros na literatura sobre associação de HPC com anoftalmia, pés tortos, hidrocefalia, defeitos diafragmáticos, onfalocele, malformações de fígado, vagina, hipófise, coração, além de outras 5,6,15 . Neste estudo, as formas mais graves de HPC estiveram acompanhadas de outras malformações.…”

Section: Malformações Renaisunclassified

“…Agenesia dos bulbos e dos tractos olfató-rios são achados frequentemente associados à holoprosencefalia 1,4,5 , mas podem ocorrer como malformação isolada ou estar presente em outras síndro-mes 1,5 . Frequentemente encontram-se, também, anor-malidades faciais, assim como, ciclopia, cebocefalia, etmocefalia, fenda facial mediana e hipo ou hipertelorismo ocular [5][6][7][8] .…”

unclassified

See 1 more Smart Citation

Holoprosencefalia: análise do seu espectro morfológico em doze casos de autópsia

Noronha

Ghanem

Medeiros

et al. 2001

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

RESUMO -O termo holoprosencefalia (HPC) é usado para o complexo de deformidades hemisféricas causadas por falha no desenvolvimento da vesícula prosencefálica. Este estudo tem como objetivo relatar o espectro morfológico de 12 casos de HPC, classificá-los e compará-los com a literatura pertinente. Avaliadas 5837 necrópsias realizadas entre 1960 e 1995, 12 apresentavam HPC. Dados como sexo, idade, e presenças de outras malformações associadas foram avaliados e comparados com as demais malformações e com o total de necrópsias. A maioria dos casos era de masculinos (66,66%) e neomortos (75%). A forma de HPC mais frequentemente encontrada foi a lobar (58,3%) e a alteração facial mais frequente foi a ciclopia (25%). Houve tendência estatística de que a HPC possa, dentro das malformações do sistema nervo central (SNC), acometer mais o sexo masculino e de que a neomortalidade seja maior na HPC do que nas outras malformações do SNC.PALAVRAS-CHAVE: holoprosencefalia, malformações cerebrais, necrópsia. Holoprosencephaly: morphological aspects of twelve cases of autopsyABSTRACT -The term holoprosencephaly (HPC) is used to indicate the group of hemispheric deformities caused by a failure in the development of the prosencephalic vesicle. The purpose of this study is to explain the morphologic specter of twelve cases of HPC, qualify them, and compare them to the literature. It was evaluated 5837 pediatrics necropsies, and there were 12 cases of HPC. Data like gender, age and the presence of another associated malformations were evaluated and compared to another malformations and to the total number of necropsies. The majority of the cases was male (66.66%), and stillborns (75%). The most frequently type of HPC found was the lobar type (58.3%), and the most frequently type of facial alteration was the ciclopy (25%). There is a statistic tendency to HPC affect the male sex, in comparison with other neurologic malformations. Besides, the stillborns are more frequently observed in HPC than in other neurologic malformations.KEY WORDS: holoprosencephaly, autopsy, nervous system malformations. O termo holoprosencefalia (HPC) é usado para o complexo de deformidades hemisféricas causadas por falha no desenvolvimento da vesícula prosencefálica. A vesícula prosencefálica é a parte mais cranial do tubo neural. Ela se divide sagitalmente dando origem, bilateralmente, em torno da quinta semana de gestação às vesículas telencefálicas que formarão os dois hemisférios cerebrais. Também se divide transversalmente originando o telencéfalo e diencéfalo, e horizontalmente originando os bulbos olfatórios e vesículas ópticas 1 . Conforme o grau de severidade dessas várias falhas, a HPC pode sofrer as seguintes gradações: alobar, semilobar, lobar e arrinencefalia isolada 2,3 . Agenesia dos bulbos e dos tractos olfató-rios são achados frequentemente associados à holoprosencefalia 1,4,5 , mas podem ocorrer como malformação isolada ou estar presente em outras síndro-mes 1,5 . Frequentemente encontram-se, também, anor-

show abstract

“…Most cases are sporadic, but holoprosencephaly can also be associated with chromosomal defects [5,[15][16][17]19] (fig. 2), maternal hyperglycemia and phenylketonuria [6,20] and intrauterine infections (cytomegalovirus) [7]. It may also constitute part of a multiple malformation syndrome (Vá radi-Papp syndrome, Hall-Pallister syndrome) [2,8].…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis, Phenotypicand Obstetric Charact eristics of Holoprosencephaly

et al. 2005

View full text Add to dashboard Cite

The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. The summary of the obstetrical and diagnostical characteristics should be useful in the management of holoprosencephaly. The analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, forms the essence of our publication. In one of the examined cases a familiar recurrence was verified.

show abstract

Holoprosencephaly in infants of diabetic mothers

Cited by 198 publications

References 11 publications

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes

Holoprosencefalia: análise do seu espectro morfológico em doze casos de autópsia

Prenatal Diagnosis, Phenotypicand Obstetric Charact eristics of Holoprosencephaly

Contact Info

Product

Resources

About