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PubMed2007

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

We describe in two brothers an apparently novel syndrome comprising obesity, congenital hypothyroidism, neonatal colitis, cardiac biventricular hypertrophy, craniosynostosis, and developmental delay. The first brother presented with neonatal colitis and congenital hypothyroidism and died at age 5 weeks of fulminant colitis. The second brother presented neonatally with the same condition, but survived and subsequently developed severe obesity, sagittal and coronal synostosis, and developmental delay. Both pregnancies had been complicated by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). Exhaustive genetic and metabolic investigations have failed to provide a unifying pathogenesis. This unique combination of manifestations appears to represent a new syndrome with probable autosomal recessive or X-linked recessive inheritance.

Cardiomegaly↗
PubMed2004

Effects of different kinds of cranial deformation on the incidence of wormian bones.

Researchers have debated whether the presence and frequency of wormian bones (sutural bones, supernumerary bones, and ossicles) are attributable to genetic factors, environmental factors, or both. This research examines the effects of many different kinds of cranial deformation on the incidence of wormian bones. A sample of 127 deformed and undeformed crania from New World archaeological sites was examined. An undeformed cranial sample (n=35) was compared to the following cranially deformed groups: 1) occipital, 2) lambdoid, 3) annular, 4) fronto-vertico-occipital, 5) parallelo-fronto-occipital, and 6) sagittal synostosis. Three levels of degree of cultural cranial deformation were qualitatively determined. Type and number of wormian bones along each major suture were recorded for each cranium. Group means were analyzed using Kruskal-Wallis one-way ANOVA statistical tests to test the null hypothesis that cranial deformation does not have an effect on wormian bone incidence. Results indicate that all forms of cranial deformation affect the frequency of some types of wormian bones. In particular, all cranially deformed groups exhibited significantly greater frequencies of lambdoid ossicles. Apical, parieto-mastoid, and occipito-mastoid wormian bones also appeared with greater frequency in some groups of culturally deformed crania. Further, varying degrees of cultural deformation all had more lambdoid wormian bones than the undeformed group. These results suggest that wormian bone development in posteriorly placed sutures may be affected more by environmental forces than are their anteriorly placed counterparts.

Adult↗
PubMed1985

Three-dimensional cranial surface reconstructions using high-resolution computed tomography.

Until recently, there has been no satisfactory way for anthropologists to visualize intracranial morphology in more than two dimensions without actually "invading" the skull in some manner. Images provided by conventional x-ray and computed tomography (CT) scans are often abstract, flat, two-dimensional representations that fail to reveal three-dimensional relationships. We describe new computer-imaging techniques that reconstruct three-dimensional images from sequential series of narrowly collimated (1-2 mm), high-resolution CT scans of the skull. These computed images represent three-dimensional surface data and can be viewed from any direction. Depth information is encoded in gray scale. In addition, selected portions of the anatomy can be "removed", i.e., made transparent, to allow visualization of previously hidden intracranial morphology. Since the geometric data obtained with the CT scanner are precise, parameters such as linear distances, angles, areas, and volumes can be accurately (and instantaneously) generated. The power and versatility of these computer-imaging techniques are demonstrated by examining living subjects with major craniofacial dysmorphology (Treacher-Collins syndrome and unilateral coronal synostosis); an anthropoid osteological specimen (Gorilla); and a fossil mammal skull.

Cephalometry↗
PubMed1988

Bone resorption of the pubis and preauricular area in humans and nonhuman mammals.

Some innominates of adult human females show areas of bone resorption on the dorsal aspect of the pubic corpus and preauricular area of the ilium. For both sites, many studies have shown a positive association between degree of resorption and parity. The present study tested hypotheses concerning resorption of the pubis and preauricular area. Samples of innominates from three prehistoric Amerindian populations were used. Within each population, only a minority of females, in general, showed resorption more severe than that which characterized males. The severity of resorption of the pubis was not significantly associated with that of the preauricular area. Pitting of the pubis, but not of the preauricular area, was significantly correlated with age-at-death in each sample of Amerindian females. Also, sacral angulation was not significantly associated with resorption of the preauricular area. Observations on resorption of the pubis and preauricular area in samples of Pan troglodytes and Gorilla gorilla are reported. In previous studies on resorption of the pubis and preauricular area in the human innominate, the proposed etiologies involve ligamentous hyperplasia and joint trauma. However, a number of studies on resorption of the pubis in the nonhuman mammalian innominate have been overlooked by anthropologists. These latter studies demonstrate that estrogen alone can induce resorption of the mammalian pubis by stimulating the synthesis of osteoclastic enzymes. Partial resorption of the pubis may be obstetrically advantageous in some mammals, as resorption would delay or inhibit synostosis of the interpubic joint. The relationship between estrogen and the preauricular area is an issue that requires further research.

Animals↗
PubMed2006

Superquadric modeling of cranial and cerebral shape and asymmetry.

A new method for quantifying cranial and cerebral shape and asymmetry fits symmetric superquadric geometric models to three-dimensional coordinate measurements. Asymmetry is quantified as radial residuals of the surface data points from their best-fit superquadric models. Twenty human crania, 10 magnetic resonance imaging (MRI) exocranial surfaces, and 10 corresponding MRI cerebral surfaces as well as two infant head casts were digitized and modeled using superquadrics. Superquadric parameters have simple geometric interpretation, are very reproducible, and demonstrated statistically significant differences between crania of Amerindian ancestry and MRI exocranial surfaces of European ancestry used in this study. Superquadric models demonstrated strong congruence between MRI exocranial and cerebral surfaces. Typical asymmetry was 1-5 mm. Lastly, polar contour plots of radial residuals for head casts before and after orthotic cranioplasty demonstrated the efficacy of using superquadrics to quantify positional plagiocephaly and synostosis of infant crania.

American Indian or Alaska Native↗
PubMed2003

Rescue of coronal suture fusion using transforming growth factor-beta 3 (Tgf-beta 3) in rabbits with delayed-onset craniosynostosis.

Craniosynostosis results in cranial deformities and increased intracranial pressure, which pose extensive and recurrent surgical management problems. Developmental studies in rodents have shown that low levels of transforming growth factor-beta 3 (Tgf-beta 3) are associated with normal fusion of the interfrontal (IF) suture, and that Tgf-beta 3 prevents IF suture fusion in a dose-dependent fashion. The present study was designed to test the hypothesis that Tgf-beta 3 can also prevent or "rescue" fusing sutures in a rabbit model with familial craniosynostosis. One hundred coronal sutures from 50 rabbits with delayed-onset, coronal suture synostosis were examined in the present study. The rabbits were divided into five groups of 10 rabbits each: 1) sham controls, 2) bovine serum albumin (BSA, 500 ng) low-dose protein controls, 3) low-dose Tgf-beta 3 (500 ng), 4) high-dose BSA (1,000 ng) controls, and 5) high-dose Tgf-beta 3 (1,000 ng). At 10 days of age, radiopaque amalgam markers were implanted in all of the rabbits on either side of the coronal suture to monitor sutural growth. At 25 days of age, the BSA or Tgf-beta 3 was combined with a slow-absorbing collagen vehicle and injected subperiosteally above the coronal suture. Radiographic results revealed that high-dose Tgf-beta 3 rabbits had significantly greater (P < 0.05) coronal suture marker separation than the other groups. Histomorphometric analysis revealed that high-dose Tgf-beta 3 rabbits also had patent coronal sutures and significantly (P < 0.01) greater sutural widths and areas than the other groups. The results suggest that there is a dose-dependent effect of TGF-beta 3 on suture morphology and area in these rabbits, and that the manipulation of such growth factors may have clinical applications in the treatment of craniosynostosis.

Animals↗
PubMed2005

Brain morphology in nonsyndromic unicoronal craniosynostosis.

Studies of isolated craniosynostosis have shown biomechanical and biochemical influences on the craniofacial phenotype, resulting from both genetic and epigenetic factors. Much less attention has been directed toward the morphology of the brain, despite the interactive nature of the developing skull and developing brain. The aim of this study is to define the morphology of the brain in nonsyndromic unilateral coronal synostosis (UCS) in order to form more complete hypotheses about the cause of craniosynostosis. Landmark coordinate data were collected from 3D magnetic resonance image reconstructions of the brain in a sample of UCS patients and an age-matched morphologically normal cohort. These data were analyzed using Euclidean distance matrix analysis. The results of our study demonstrate that despite the basic similarity of overall shape of the brain and skull in UCS, the effects of craniosynostosis on the brain are not localized to structures immediately adjacent to the fused suture or to the endocranial surface of the skull. Rather, alterations are observed throughout the volume of the brain, with subcortical structures altered in conjunction with cortical changes. These results indicate that the morphological correlates are different for brain and skull and suggest that there is a large degree of independence in the developmental trajectories of the brain and skull.

Age Factors↗
PubMed2005

Clinical anatomy of the posterior maxilla pertaining to Le Fort I osteotomy in Thais.

This article studies the anatomy of the posterior maxilla pertaining to bone-cut design of Le Fort I osteotomy to avoid the injury to the descending palatine artery in Thais. Fifty-five skulls (38 males, 17 females) were assessed for the anatomical landmarks by a combination of direct inspection, computerized imaging, and computed tomography scan analysis. The results showed that 27.28% of the pterygomaxillary junction (PMJ) became synostosis. The mean heights of the PMJ, posterior maxilla, and maxillary tuberosity were 15.14 +/- 2.46 mm, 22.51 +/- 3.50 mm, and 7.45 +/- 2.76 mm, respectively. The mean length of the medial sinus wall measuring from the piriform rim to the descending palatine canal at the Le Fort I level was 34.40 +/- 2.96 mm. The mean widths of the posterior incision of Le Fort I osteotomy at the maxillary tuberosity and PMJ were 20.38 +/- 2.82 mm and 11.60 +/- 1.57 mm. The mean length of the posterior maxilla was 27.18 +/- 2.49 mm. Distances from the greater palatine foramen to the maxillary tuberosity incision and PMJ incision were 1.76 +/- 1.12 mm and 3.59 +/- 1.40 mm. The mean angle between the descending palatine canal and the hard palate was 57.33 +/- 4.54 degrees . There were no significant differences in any measurements between sides and genders, except the pterygoid process width and posterior maxilla length of males were longer than those of females (P < 0.05). This study could provide better understanding of the posterior maxillary anatomy that is important for the bone-cut design of Le Fort I osteotomy to avoid excessive intraoperative and postoperative hemorrhage including ischemia of the mobilized maxilla.

Female↗
PubMedDate not supplied

Familial osteodysplasia.

A family with characteristics that have striking similarities to the syndrome of familial osteodysplasia is reported. The inheritance pattern appears to be autosomal dominant. The typical facies has a lack of vertical facial development and a functional prognathism caused by overclosure of the mandible and opening of the gonial angle. Midfacial hypoplasia and a pointed chin are characteristic. Alveolar and sutural bone growth in the face is diminished and associated with partial dental agenesis. Variable cranial digital markings and possible synostosis are also seen. These typical facial changes are associated with other bony and systemic abnormalities. The long bones have a flask shape and occasionally have increased cortical thickness. The superior pubic ramus is often thin and scoliosis is common. The dermatoglyphic pattern demostrates a distal triradius and small whorl abnormalities. The most significant laboratory values are an increased erythrocyte sedimentation rate and C3 complement found on the erythrocytes. The plasma fibrinogen level was low in all family members.

Adult↗
PubMed1992

Effects of 4-amino-1-hydroxybutylidene bisphosphonate on bone biomechanics in rats.

Bisphosphonates inhibit osteoclast-mediated bone resorption, but their effects on the mechanical behavior of bone remain uncertain. This study investigated the effects of 4-amino-1-hydroxybutylidene bisphosphonate (AHBuBP) on the biomechanical and morphologic properties of bone in ovariectomized rats. Sprague-Dawley rats (four groups, n = 6) were ovariectomized at 3 months of age. From 7 to 13 months, the groups received vehicle or 0.28, 2.8, or 28 micrograms/kg of AHBuBP twice weekly through subcutaneous injection. An additional group of control animals (n = 6) received neither surgery nor drug. We determined the stiffness, yield, and ultimate loads of the femoral midshaft, the sixth lumbar (L6) vertebra, and the femoral neck. Geometric properties of the cortical bone were measured from digitized images of the tibial diaphysis at the level of the synostosis. The area fraction of trabecular bone was determined through the midsagittal plane of the fifth lumbar (L5) vertebra. There were no significant differences in the structural properties of the femoral neck and midshaft, with the exception that the medium-dose group had a greater ultimate load than the vehicle group for the femoral midshaft in bending. Cross-sectional analysis of the tibia did not show significant differences in the inertial properties or area. Ovariectomy caused a significant reduction in the stiffness and ultimate load of L6 and in the area fraction of trabecular bone of L5.(ABSTRACT TRUNCATED AT 250 WORDS)

Alendronate↗
PubMed1981

Morphological investigation into functions of the jaw symphysis in carnivorans.

The hemimandibles in carnivorans may be united in various ways at the symphysis menti. The symphysis may contain a readily flexible joint that permits a moderate amount of independent movement of the hemimandibles. This type of symphyseal union is primitive for and widely distributed in extant carnivorans. In other carnivorans, the symphysis is patent but allows slight or essentially no independent movement of the hemimandibles. Finally, the hemimandibles may be rigidly united by synostosis of the symphysis. The morphology, movement and, insofar as possible, function of these types of symphyses are described.

Animals↗
PubMed2002

Avian furcula morphology may indicate relationships of flight requirements among birds.

This study examined furcula (wishbone) shape relative to flight requirements. The furculae from 53 museum specimens in eight orders were measured: 1) three-dimensional shape (SR) as indicated by the ratio of the direct distance between the synostosis interclavicularis and the ligamentous attachment of one of its clavicles to the actual length of the clavicle between those same two points, and 2) curvature within the primary plane (LR) as indicated by the ratio of the length of the clavicle to the sum of the orthogonal distances between the same points using a projected image. Canonical discriminant analysis of these ratios placed the individuals into a) one of four general flight categories and b) one of eight taxonomic orders. The four flight categories were defined as: i) soaring with no flapping, ii) flapping with no soaring, iii) subaqueous (i.e., all wingbeats taking place under water), and iv) partial subaqueous (i.e., wingbeats used for both aerial and submerged flapping). The error rate for placement of the specimens in flight categories was only 26.4%, about half of the error rate for placement in taxonomic orders (51.3%). Subaqueous fliers (penguins, great auks) have furculae that are the most V-shaped. Partial subaqueous fliers (alcids, storm petrels) have furculae that are more U-shaped than the subaqueous fliers but more V-shaped than the aerial flapping fliers. The partial subaqueous fliers have furculae that are also the most anteriorly curved, possibly increasing protraction capability by changing the angle of applied force and increasing attachment area for the origin of the sternobrachialis pectoralis. The increased protraction capability can counteract profile drag, which is greater in water than in air due to the greater density of water. Soaring birds have furculae that are more U-shaped or circular than those of flapping birds and have the smallest range of variation. These results indicate that the shape of the furcula is functionally related to general differences in flight requirements and may be used to infer relationships of these requirements among birds.

Animals↗
PubMed1981

In utero diagnosis of Kleeblattschädel (cloverleaf skull).

Kleeblattschädel anomaly, or cloverleaf skull (Comings, 1965) is a name given to a grotesque appearance of the skull resulting from congenital premature synostosis of the various sutures. These will usually include the coronal and lambdoidal sutures. This rare entity is usually diagnosed during the newborn period and is verified by radiological findings. With the advent of ultrasound, and its frequent usage in obtaining bi-parietal diameters, prenatal diagnosis of this skull abnormality is possible, and has recently been reported (Brahman et al. 1979). This communication reports another case of prenatal diagnosis of Kleeblattschädel by ultrasound.

Adult↗
PubMed1993

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome.

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

Adult↗
PubMed1987

Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly.

This is the first detailed report of the craniofacial anatomy of atelencephaly. Comparisons were made with a control specimen and others with holoprosencephaly, anencephaly, and anencephaly with holoprosencephalic facial features. In the atelencephalic fetus, severe microcephaly, flattened calvaria, and partial synostosis of the metopic suture were apparent. The cranial fossae were much smaller than usual; lesser wings of the sphenoid were folded into a rounded basal mass. Facial features were pronounced, and orbits were hyperteloric, lowset, and rounded. Ethmoidal cartilages, nasal bones, and maxillary structures were distorted and elongated. The secondary palate was displaced inferiorly and cleft. Because major components of the craniofacial complex were generally present, although misshapen, changes in the atelencephalic skull seem to be deformations rather than malformations. Differences in the cranial morphology of associated disorders--holoprosencephaly and anencephaly--can be construed as aberrations of separate developmental fields. Relationships between atelencephaly and these fields are unclear.

Abnormalities, Multiple↗
PubMed1999

The premaxilla in Neandertal and early modern children: ontogeny and morphology.

This comparative study of maxillae in Neandertals, Qafzeh, and extant children examines two specific traits: the premaxillary suture (sutura incisiva) and the interincisive sinuses, proposing a new hypothesis about some features of the Neandertal mid-face. Morphologic study of the premaxillary suture at its different borders (i.e. the nasal aspect of the frontal process, nasal and palatal aspects of the palatal process of the maxilla) indicates a persistence of the suture among very young Neandertal children in comparison to the condition in extant ones. This suggests a longer independence of some parts of the premaxilla in Neandertals. To further examine this possibility, CT scans of two Neandertal children were analyzed: Roc de Marsal, estimated to be about 3 years, and Engis 2, estimated to be about 5-6 years. The results are quite different between the fossils. In the older, the premaxillary suture is represented only by a deep groove. In the younger it extends deep to the surface of the nasal process reaching the Parinaud's canal. Synostosis of the premaxillary suture was found to occur later in Neandertal children than in modern ones. Moreover, we observed the existence of two interincisive sinuses in the fossil children, whereas this is rare in modern children (present on only 2% of our sample of 0-6 year-old infants, n = 247). Persistence of an open premaxillary suture represents the potential for an extended period of growth of the Neandertal mid-face. Although no trace of the premaxillary suture remains in adult Neandertals, Neandertals present many features classically considered as consequences of this persistence. The two interincisive sinuses could be a consequence of the labio-lingual diameter of the incisors. The results presented here can be further investigated by additional studies on the cranial sutural system and by precise morphologic observations and CT scans of the mid-face of a larger sample of fossil children.

Adult↗
PubMed1993

FFU complex: an analysis of 491 cases.

A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in FFU complex. These are amelia, peromelia of humerus, humero-radial synostosis and defect of ulna. In our study, 491 patients were investigated for involvement of limb malformations. Our results, showing nearly equal proportions of the most common malformations in four analysed groups (with one, two, three and four limbs affected) supports the hypothesis that even if one arm or one leg only is affected, the cases may still be classifiable as FFU complex. There is a striking asymmetry in presence and in degree. All malformations are more often unilateral than bilateral. Upper limbs are affected more often than lower limbs. The right side and the male sex are preferentially affected. The limb malformations present in the FFU complex are different from those seen in most other types of limb defects, so there is virtually no overlap between FFU and other limb malformations. Some arguments in favour of early somatic mutation as a cause are discussed.

Child↗
PubMed1988

Hydrocephalus in craniosynostosis.

Routine CT scanning in 221 patients with craniosynostosis revealed ventricular dilation in 40. In 5 hydrocephalus was obviously unrelated to the craniostenosis. The remaining 35 cases were associated almost exclusively with syndromic craniosynostosis. Ventricular dilation was mild in 22, moderate in 9, and marked in 4 patients. Clinical and radiological findings strongly suggest that three different mechanisms are involved in the pathogenesis of hydrocephalus: primary cerebral maldevelopment, brain atrophy, and CSF outflow obstruction. In the diagnosis of hydrostatic hydrocephalus with craniosynostosis, head circumference is no indicator of progressive hydrocephalus, and intracranial hypertension may be due either to CSF accumulation or to craniostenosis. The present study indicates that shunt treatment prior to correction of synostosis should be restricted to a few cases of rapidly progressing hydrocephalus. Secondary shunting of hydrocephalus may be considered if intracranial pressure remains high despite adequate cranial decompression. Shunting is not an appropriate treatment for craniostenosis--even in cases of concurrent ventricular dilation.

Adolescent↗