Pathogenesis of holoprosencephaly

Geng, Xin; Oliver, Guillermo

doi:10.1172/jci38937

Cited by 88 publications

(111 citation statements)

References 108 publications

Supporting

Mentioning

106

Contrasting

Unclassified

Order By: Relevance

“…5 In lobar cases diagnosis could be difficult because the antenatal picture of septo-optic dysplasia is almost identical to that of lobar holoprosencephaly. 6 Unfortunately, our patient was not registered for antenatal care in our hospital; hence no ultrasound examinations could be performed earlier and diagnosis could not be made. Other diagnostic modalities include fetal MRI, Cytogenetic analysis and molecular analysis of fetal DNA.…”

Section: Discussionmentioning

confidence: 95%

See 1 more Smart Citation

Holoprosencephaly with cyclopia: a rare case report

Rathod

Samal

Begum

2015

Int J Otorhinolaryngol Head Neck Surg

View full text Add to dashboard Cite

Holoprosencephaly (HPE) with cyclopia is a rare congenital anomaly of the forebrain system where due to deformation and hypoplasia of the facial skeleton, one eye orbit is formed in the place where both eyes should be present. Many teratogenic factors are identified as the causative factors for this anomaly which include irregular cholesterol biosynthesis, viruses, alcohol intake and maternal diabetes. Many authors also suggest genetic aetiology of this illness. We report a case of 32 year old lady G2P1L1 with previous history of normal vaginal delivery who presented to us in second stage of labour. She delivered a female fetus with multiple defects and later diagnosed as a case of holoprosencephaly with cyclopia. The baby died soon after the birth. This case is presented because of its rarity. Early ultrasound diagnostics and proper management of this anomaly must be emphasized most strongly to prevent complication associated with this condition.

show abstract

Section: Discussionmentioning

confidence: 95%

“…Cyclopia, proboscis and cheilo/palatoschisis are associated with severe and life-threatening forms of HPE. 6 Microcephaly, or, rarely, macrocephaly, suggesting the presence of hydrocephaly. 7 Mental retardation directly correlated with the severity of HPE.…”

Section: Discussionmentioning

confidence: 99%

Holoprosencephaly with cyclopia: a rare case report

Rathod

Samal

Begum

2015

Int J Otorhinolaryngol Head Neck Surg

View full text Add to dashboard Cite

show abstract

“…Holoprosencephaly (HPE; Cohen, 2006;Geng and Oliver, 2009) (Roessler et al, 2009). Recently, combinations of HPE and congenital heart defects are shown to associate with mutations of components of NODAL pathway such as NODAL, CFC1, SMAD2, and FOXH1 (Roessler et al, 2008(Roessler et al, , 2009.…”

Section: Discussionmentioning

confidence: 99%

“…Apparently normal expression of Fgf8 and Pax2 was found in the isthmus at the midhindbrain junction and the midbrain respectively, highlighting that the loss of IIA impacts mainly on the development of the forebrain. Six3 activity is required for forebrain differentiation and mutations of which have been implicated in holoprosencephaly pathogenesis (Geng et al, 2008;Geng and Oliver, 2009). Six3 was expressed appropriately in the neural precursor tissues in E7.5 IIA À/À embryos (n ¼ 3/3; Fig.…”

Section: Loss Of Shh Expression Is Accompanied By Early Head Defectsmentioning

confidence: 96%

Loss of procollagen IIA from the anterior mesendoderm disrupts the development of mouse embryonic forebrain

Leung

Wong

Chan

et al. 2010

Developmental Dynamics

View full text Add to dashboard Cite

Morphogenesis of the mammalian forebrain is influenced by the patterning activity of signals emanating from the anterior mesendoderm. In this study, we show that procollagen IIA (IIA), an isoform of the cartilage extracellular matrix protein encoded by an alternatively spliced transcript of Col2a1, is expressed in the prechordal plate and the anterior definitive endoderm. In the absence of IIA activity, the null mutants displayed a partially penetrant phenotype of loss of head tissues, holoprosencephaly, and loss of mid-facial structures, which is associated with reduced sonic hedgehog (Shh) expression in the prechordal mesoderm. Genetic interaction studies reveal that IIA function in forebrain and face development does not involve bone morphogenetic protein receptor 1A (BMPR1A)-or NODAL-mediated signaling activity.

show abstract

“…The monoventricle spreads anteriorly as a crescent-shaped cavity and divides posteriorly into temporal horns [22]. A few cases with partial or completely missing ventricular lumina in holoprosencephalic brains have been described [7,12,25]. Diagnosis of absence of supratentorial ventricles was based on neuroimaging analysis.…”

Section: Introductionmentioning

confidence: 99%