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PubMed1995

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.

Five children are described with a striking, asymmetric facial appearance, craniosynostosis, preaxial polysyndactyly, agenesis of the corpus callosum and unusual skin with streaky areas of atrophy. The gut and mucous membranes are involved in two patients. This paper includes two patients described by Gorlin (1990) under the designation of the Curry Jones syndrome.

Abnormalities, Multiple↗
PubMed1997

[Outcome of profile-improving operations in craniofacial abnormalities].

In 52 children with craniosynostosis, we studied the effect of fronto-orbital advancement onto the forehead profile and the growth tendency of the forehead and midface. As a reference, the following kephalometric data were used: SN line. N-Spna line, SNA angle, N-tf line (as an indicator of the forehead profile) and the tf-TF line (as an indicator of the forehead size). The operation was carried out at an mean age of 10.5 months. Follow-up with X-ray control covered a period of 37.2 months on average. In patients with brachycephalus the SNA line was reduced and the post-operative growth tendency was the most unfavorable. Also the forehead profile (N-tf-line) did not become normal after the operation in patients with brachycephalus. Besides this, the increase in the forehead size indicated a new growth-tendency disorder. In all children with brachycephalus as well as in most children with oxycephalic growth tendency, sagittal midface growth was inhibited (NSA angle) while vertical midface growth was normal (N-Spna line). The success of fronto-orbital advancement was dependent on the kind of growth disorder, the location, and the age when the operation was carried out. Only early operative treatment could interrupt the pathological growth tendency even in cases with a major development disorder.

Cephalometry↗
PubMed1998

Craniofacial developmental abnormalities.

Major advances have been made in the elucidation of the molecular basis of a number of human dysmorphic syndromes involving abnormalities of craniofacial development. This will lead, in turn, to a greater understanding of the mechanisms that underlie normal craniofacial development.

Animals↗
PubMedDate not supplied

Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation.

Abnormal craniofacial features of a transgenic mouse model of chondrodysplasia with a type II collagen mutation (Gly574Ser) are described in this report. In addition to a shortened mandible and cleft palate, a misshapen otic capsule was observed. Interestingly, hearing impairment is often a component of the chondrodysplasia phenotype that results from mutations in COL2A1. To identify a potential mechanism in the hearing loss associated with type II collagen mutations, we examined the development of the otic capsule in the transgenic mice. It appeared to be smaller overall, relative to the skull proportions, and rather than the normal rounded dimensions, the transgenic capsule was flattened and elongated. We speculate that the cartilage of the developing otic capsule was less able to resist the mechanical forces from the developing brain and other tissues within the cranium and thus became deformed under pressure. We further speculate that the hearing loss associated with the chondrodysplasia phenotype is at least partially due to these defects in the developing cartilage matrix of the otic capsule.

Animals↗
PubMed1995

The relationship between obesity and craniofacial structure in obstructive sleep apnea.

STUDY OBJECTIVE: To evaluate the interaction between craniofacial structure and obesity in male patients with obstructive sleep apnea (OSA). DESIGN: Retrospective analysis of a cohort of OSA patients. The relationships between neck circumference (NC), body mass index, apnea severity, and craniofacial and upper airway soft-tissue measurements from upright lateral cephalometry were examined. Patients were divided into groups; small to normal NC (group A), intermediate NC (group B), or large NC (group C). SETTING: A university teaching hospital and tertiary sleep referral center. PATIENTS: A consecutive series of patients with OSA who underwent polysomnography and lateral cephalometry. MEASUREMENTS AND RESULTS: Group A patients were less obese and had more craniofacial abnormalities such as a smaller mandible and maxilla and a more retrognathic mandible. Group B patients had both upper airway soft-tissue and craniofacial abnormalities. Group C patients were more obese with larger tongues and soft palates, and an inferiorly placed hyoid. Group C patients also had fewer craniofacial abnormalities than group A or B patients. There was no difference in airway size among the three groups. CONCLUSIONS: We conclude that there is a spectrum of upper airway soft-tissue and craniofacial abnormalities among OSA patients: obese patients with increased upper airway soft-tissue structures, nonobese patients with abnormal craniofacial structure, and an intermediate group of patients with abnormalities in both craniofacial structure and upper airway soft-tissue structures.

Adult↗
PubMed1980

The effect of high doses of retinoic acid on prenatal craniofacial development in Macaca nemestrina.

Eight pregnant Macaca nemestrina were administered from 7.5 to 10 mg/kg retinoic acid by mouth from day 20 to 44 of gestation. All fetuses exhibited craniofacial abnormalities. The craniofacial complex was studied in detail utilizing gross photography, silver nitrate impregnation, radiography, alizarin staining, and histologic processing. Nearly all the bones of the craniofacial complex were affected; the zygomatic bone and the mandible were most severely altered. Premature fusion of the coronal suture occurred in all the specimens, and there was a clockwise rotation of the craniofacial complex on right lateral view. In general, the bones of the affected fetus were smaller and less well developed than in the control specimen. The abnormal specimens in the present investigation resembled the Treacher-Collins syndrome in humans, and may be the result of defective neural crest cell migration in the first and second branchial arches.

Abnormalities, Drug-Induced↗
PubMed1999

Craniofacial skeletal abnormalities in anomalous calves with clefts of the face.

Thirteen anomalous calves with clefts of the face were morphologically examined, and craniofacial skeletons were studied in detail. According to the type and site of the cleft, four groups could be distinguished: median cleft lip and jaw (CLJ); median cleft lip, jaw, and palate (CLJP); lateral CLJ; and cleft palate (CP), including unilateral and bilateral type. Craniofacial skeletal abnormalities were observed in several bones at the roof, wall, and floor of the nasal cavity and at the boundary portion between the nasal and cranial cavities. Fissure formation at the cranial sutures, partial absence of the nasal process of the incisive bone, and opening of the bony palate were characteristic changes in median CLJ and CLJP, lateral CLJ, and CP, respectively. Furthermore, various associated changes were recognized in the median and paramedian skeletal elements of the face and other organs. The morphological changes of craniofacial skeletons with various types of clefts of the face depended on the site and degree of the cleft formation and reflected developmental errors of the facial embryonic segments. These changes would suggest disorders of the correlated development of facial processes and of other fetal organs of the face. For these conditions, etiologically hereditary cases were negative.

Animals↗
PubMed2003

Molecular and cellular bases of syndromic craniosynostoses.

Premature fusion of cranial sutures underlies the clinical condition of 'craniosynostosis', a common human disorder that occurs in both nonsyndromic and syndromic forms. The subgroup of syndromic craniosynostoses usually associates limb abnormalities and facial dysmorphism to skull distortion. Over the past decade, some of the genes causing these phenotypes have been identified. Among these, the gene encoding FGFR2, one of four members of the fibroblast growth factor receptor(FGFR) family, has been shown to account for several severe conditions including Apert, Pfeiffer, Crouzon, Beare-Stevenson and Jackson-Weiss syndromes. Two other FGFRs, FGFR1 and FGFR3, also account for craniosynostoses of variable severity [Pfeiffer, Crouzon with acanthosis nigricans (a pre-malignant skin disorder), and Muenke syndromes]. By contrast,Saethre-Chotzen syndrome and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively. Whereas most FGFR mutations are likely to cause ligand independent activation of the receptor, leading to an upregulation of signaling pathways, mutations in the basic helix-loop-helix (bHLH) transcription factor Twist appear to induce loss of protein function. This review will summarise and discuss some of the cellular and molecular mechanisms involved in normal and abnormal craniofacial development, focusing on the possible interactions between the different factors controlling membranous ossification.

Craniofacial Abnormalities↗
PubMed2006

TGFbeta-mediated FGF signaling is crucial for regulating cranial neural crest cell proliferation during frontal bone development.

The murine frontal bone derives entirely from the cranial neural crest (CNC) and consists of the calvarial (lateral) aspect that covers the frontal lobe of brain and the orbital aspect that forms the roof of bony orbit. TGFbeta and FGF signaling have important regulatory roles in postnatal calvarial development. Our previous study has demonstrated that conditional inactivation of Tgfbr2 in the neural crest results in severe defects in calvarial development, although the cellular and molecular mechanisms by which TGFbeta signaling regulates the fate of CNC cells during frontal bone development remain unknown. Here, we show that TGFbeta IIR is required for proliferation of osteoprogenitor cells in the CNC-derived frontal bone anlagen. FGF acts downstream of TGFbeta signaling in regulating CNC cell proliferation, and exogenous FGF2 rescues the cell proliferation defect in the frontal primordium of Tgfbr2 mutant. Furthermore, the CNC-derived frontal primordium requires TGFbeta IIR to undergo terminal differentiation. However, this requirement is restricted to the developing calvarial aspect of the frontal bone, whereas the orbital aspect forms despite the ablation of Tgfbr2 gene, implying a differential requirement for TGFbeta signaling during the development of various regions of the frontal bone. This study demonstrates the biological significance of TGFbeta-mediated FGF signaling cascade in regulating frontal bone development, suggests that TGFbeta functions as a morphogen in regulating the fate of the CNC-derived osteoblast and provides a model for investigating abnormal craniofacial development.

Animals↗
PubMedDate not supplied

Potocki-Shaffer syndrome: report of one case.

Potocki-Shaffer syndrome (PSS) results from deletion of proximal short arm of chromosome 11. We present a 14-month-old male baby with cardinal pictures of PSS such as bilateral parietal foraminae, abnormal craniofacial appearance, hypotonia and developmental delay. Cytogenetic study revealed deletion of chromosome 11 from p11.12 to p11.2 in this proband and his mother, but microsatellite marker study showed deletion only in this proband. Despite previous negative chromosome study, positive family history with two similarly affected elder siblings and the finding of bilateral parietal foraminae finally lead to the etiologic diagnosis.

Chromosome Deletion↗
PubMed1975

Interference with proliferative activity in the CNS and its relation to facial abnormalities.

In considering craniofacial abnormalities, possible caused by factors interfering with cell proliferation, it is important to keep in mind the central nervous system. The CNS produces specific cell types throughout gestation and interference with cell proliferation may cause permanent cell loss. In this study it is shown that brief insults may damage some brain structures and spare others. Which structures sustain damage depends on which cells are proliferating at the time of insult. The varied lesions produced by interference at different stages of development were found to be accompanied by different syndromes of behavioral abnormalities.

Abnormalities, Drug-Induced↗
PubMed1997

Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.

Holoprosencephaly is a congenital defect of the median structures of the brain and face. The epidemiology is poorly known due to the paucity of population-based studies. This study describes the epidemiology of holoprosencephaly in a large population, using cases identified through the New York State Congenital Malformations Registry, and born in 1984-1989. We describe the craniofacial abnormalities present, their frequency, and their cooccurrence, and we examine the correspondence between the severity of craniofacial abnormalities, chromosomal abnormalities, and severity of the brain defect. Liveborn cases totaled 78, yielding a prevalence of 4.8 per 100,000 live births. Prevalence among girls was nearly double that in boys, and was 4.2 times higher among infants of mothers under age 18 compared to infants of older mothers. Only 9.8% of all cases had no craniofacial abnormalities other than the brain defect. Eye malformations were present in 76.8%, nose malformations in 69.5%, ear malformations in 50%, and oral clefts in 41.5%. These malformations arise at different times during gestation. The variability in patterns of cooccurrence suggests variability in the developmental pathways and/or timing of developmental derangements which result in holoprosencephaly. This, in turn, is consistent with a model of multiple causes. Children with alobar holoprosencephaly tended to have the most severe craniofacial anomalies, but the correspondence was not 100%. Craniofacial phenotype does not consistently discriminate between cytogenetically normal and abnormal cases.

Chromosome Aberrations↗