Craniosynostosis update 1987

Mm, Cohen

doi:10.1002/ajmg.1320310514

Cited by 136 publications

(63 citation statements)

References 111 publications

(36 reference statements)

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“…Characteristic craniofacial malformations occur in neurological cretinism including, midface hypoplasia, vertical displacement of the cranial base, flattened frontal bones, and diminutive nasal bones, leading to infantile appearance of the head (Israel et al, 1983). Also craniosynostosis, or early closure of the cranial sutures has been implicated in maternal thyroid status (Cohen, 1988). Akita et al (1994) noted that congenital or juvenile hyperthyroidism accelerates skeletal bone formation leading to premature closure of the calvarial sagittal suture and excess thyroxine lead to prominently decreased size in the leftright direction of the skull.…”

Section: Regional Changes In Morphology and Surface Area Of The Hc Inmentioning

confidence: 99%

Novel two-dimensional morphometric maps and quantitative analysis reveal marked growth and structural recovery of the rat hippocampal regions from early hypothyroid retardation

Farahvar

Meisami

2007

Experimental Neurology

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Effects of postnatal hypothyroidism and recovery from this condition on regional growth of the rat hippocampus (HC) were studied using two-dimensional (2D) foldout, morphometric maps of HC and its constituent CA1-CA4 regions. The maps were derived from unfolding serial coronal sections of the rat forebrain, consisting of the entire rostrocaudal extent of HC pyramidal cell layer in the normal control and hypothyroid weanling (P25, postnatal day 25) and young adult (P90) male rats, as well as animals allowed to recover from hypothyroid-induced growth retardation at weaning. The maps revealed novel views of HC regions for assessment of topological relationships and measurement of surface areas of the HC cortical sheet (pyramidal cell layer). In normal control P90 rats, the unfolded HC on each side extended 4 times more laterally than rostrocaudally; total HC surface area was about 40 mm 2 , compared to 30 mm 2 in the weanling, indicating 35% growth from P25 to P90; CA1 took up 52% of the total HC surface area, followed by CA3 (31%) and CA2 and CA4, 8% each. Hypothyroidism resulted in significant (p<0.01) 11% and 20% reductions in the HC surface area in P25 and P90 rats respectively; CA1 and CA4 regions suffered the most reductions while CA3 and CA2 regions the least. Recovering rats examined at P90, exhibited remarkable growth plasticity and recovery in HC regions, as evident by their near normal HC cortical surface area values, compared to age-matched controls. The 2-D maps also revealed growth deficits in all HC regions of the hypothyroid rats; recovery in these parameters occurred across all dimensions, although the anterior-posterior growth was more severely affected than the mediolateral one. These results are confirmed and extended by volumetric analysis of laminar volumes of HC regions presented in a companion paper (Farahvar et al., 2006). These results imply that HC regions, in contrast to whole brain, possess exceptional growth plasticity, as shown by ability to dramatically recover from early hypothyroid retardation; also 2D morphometric maps are useful tools to visualize complex and convoluted regional sheet of HC cortex and depict quantitative aspects of growth in normal and experimental conditions.

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Section: Regional Changes In Morphology and Surface Area Of The Hc Inmentioning

confidence: 99%

Novel two-dimensional morphometric maps and quantitative analysis reveal marked growth and structural recovery of the rat hippocampal regions from early hypothyroid retardation

Farahvar

Meisami

2007

Experimental Neurology

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“…3 As described by Dr Eugene Apert in 1906, Apert syndrome is characterized by the clinical triad of craniosynostosis, midface hypoplasia, and symmetric syndactyly of the hands and feet. The inheritance of Apert's syndrome is autosomal dominant but most cases arise as spontaneous mutations that appear to originate almost exclusively in the paternal germ line.…”

Section: Discussionmentioning

confidence: 99%

Apert\'s Syndrome: Report of a New Case and its Management

Dixit¹,

Singh²,

Gs³

et al. 2008

International Journal of Clinical Pediatric Dentistry

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“…We showed previously that individuals affected with Boston-type craniosynostosis bear a mutation in the MSX2 gene (labs et al, 1993). Craniosynostosis, Bostontype, is one of over a hundred genetic syndromes in which craniosynostosis is a feature (Cohen, 1988(Cohen, , 1993. This autosomal-dominant disorder was described in a large kindred in the northeastern United States Warman et al, 1993).…”

Section: (22) Using Transgenic Mouse Technology To Understand Human mentioning

confidence: 99%

Genetically Engineered Mice: Tools To Understand Craniofacial Development

Ignelzi

Liu

Maxson

et al. 1995

Critical Reviews in Oral Biology & Medicine

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ABSTRACT:In this review, we provide a survey of the experimental approaches used to generate genetically engineered mice. Two specific examples are presented that demonstrate the applicability of these approaches to craniofacial development. In the first, a promoter analysis of the Msx2 gene is presented which illustrates the cis regulatory interactions that define cell-specific gene expression. In the second, a mouse model of the human disease craniosynostosis, Boston type, has been created by misregulation of the Msx2 gene product. Finally, we present a formulary of spontaneously occurring and genetically engineered mice that exhibit defects in developmental processes affecting the craniofacial complex. The purpose of this review is to provide insight into the experimental approaches that are used to create genetically engineered mice and to impress upon the reader that genetically engineered mice are well-suited to address fundamental questions pertaining to the development, maintenance, and regeneration of tissues and organs.

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Craniosynostosis update 1987

Cited by 136 publications

References 111 publications

Novel two-dimensional morphometric maps and quantitative analysis reveal marked growth and structural recovery of the rat hippocampal regions from early hypothyroid retardation

Novel two-dimensional morphometric maps and quantitative analysis reveal marked growth and structural recovery of the rat hippocampal regions from early hypothyroid retardation

Apert\'s Syndrome: Report of a New Case and its Management

Genetically Engineered Mice: Tools To Understand Craniofacial Development

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