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PubMed2006

Phenotypic integration of neurocranium and brain.

Evolutionary history of Mammalia provides strong evidence that the morphology of skull and brain change jointly in evolution. Formation and development of brain and skull co-occur and are dependent upon a series of morphogenetic and patterning processes driven by genes and their regulatory programs. Our current concept of skull and brain as separate tissues results in distinct analyses of these tissues by most researchers. In this study, we use 3D computed tomography and magnetic resonance images of pediatric individuals diagnosed with premature closure of cranial sutures (craniosynostosis) to investigate phenotypic relationships between the brain and skull. It has been demonstrated previously that the skull and brain acquire characteristic dysmorphologies in isolated craniosynostosis, but relatively little is known of the developmental interactions that produce these anomalies. Our comparative analysis of phenotypic integration of brain and skull in premature closure of the sagittal and the right coronal sutures demonstrates that brain and skull are strongly integrated and that the significant differences in patterns of association do not occur local to the prematurely closed suture. We posit that the current focus on the suture as the basis for this condition may identify a proximate, but not the ultimate cause for these conditions. Given that premature suture closure reduces the number of cranial bones, and that a persistent loss of skull bones is demonstrated over the approximately 150 million years of synapsid evolution, craniosynostosis may serve as an informative model for evolution of the mammalian skull.

Brain↗
PubMed1984

Present status of laser neurosurgery.

A three-fold approach to the status of laser neurosurgery was taken: 1) Questionnaire to Program Directors for neurosurgery training in the United States and Canada; 2) an analysis of titles in the preliminary neurosurgery program of the Fifth International Congress of Neurosurgery; 3) A literature survey covering the last 3 years of publication. The results showed increasing interest in the use of lasers in neurosurgery, especially for neoplasms in brain and spinal canal. The CO2 laser still dominates the field but Neodymium YAG is also finding wide use. The author comments on directions that laser neurosurgery may take in the future. Special emphasis is made on new applications combining advanced technologies, including CAT scanning, ultrasonography, stereotaxic techniques, and computer control.

Brain Neoplasms↗
PubMed2001

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings.

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow-up are presented.

Abnormalities, Multiple↗
PubMed2006

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.

OBJECTIVE: We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype. METHODS: Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus. RESULTS: Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple-suture synostosis. The most common G380R FGFR3 achondroplasia mutation was detected. CONCLUSION: The most common achondroplasia mutation should be considered for prenatal DNA testing in cases with ultrasound findings of achondroplasia and multiple-suture synostosis. This is crucial for the genetic counselling and perinatal management of the fetus.

Achondroplasia↗
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↗
PubMed1995

The ultrasonic detection of an isolated craniosynostosis.

The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented.

Adult↗
PubMed2004

Prenatal diagnosis of Pfeiffer syndrome type II.

Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history.

Acrocephalosyndactylia↗
PubMed1976

Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier than those with coronal synostosis. Major malformations occurred in 22%, and 8.9% were mentally retarded. The retardation was clearly unrelated to the synostosis in almost half the patients. The remaining retarded patients had a significantly lower mean birth weight, higher frequency of malformations, and later age at operation than the control group. We believe the late age at operation was due to bias in the ascertainment of this group of retarded children, and that sagittal synostosis was simply one of a number of malformations that can occur in children with intrinsic retardation. Familial data and the skull measurements of a sample of parents of affected children were compatible with multifactorial inheritance; however there is need for prospective family studies and parental measurements on ethnically uniform groups.

Adolescent↗
PubMed1977

Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly.

This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lacked polysyndactyly or syndactyly. Bilateral and unilateral coronal synostosis occurred with approximately equal frequency and there was an excess of males in both groups. Multiple suture involvements was frequent in patients with bilateral synostosis, but was uncommon in those with unilateral involvement. Those patients with bilateral synostosis and additional suture involvement were treated later than those with isolated bilateral synostosis and a possible explanation for this finding is discussed. Forty-seven percent of patients with bilateral synostosis had additional major malformations. Cardiac malformations were significantly more frequent than would be expected by chance. Thirty-five percent of patients with unilateral involvement had major malformations. Twenty-six percent of those with bilateral and ten percent of those with unilateral synostosis were mentally retarded, but retardation was found to be associated either with increased frequency of major malformations or with a complex medical history. Mental retardation is uncommon in simple, uncomplicated coronal synostosis. Twelve of the 104 families showed a positive family history; nine with vertical and three with horizontal transmission. An admixture of unilateral and bilateral suture involvement was the rule, and families with involvement limited to unilateral synostosis did not occur. Certain patterns of characteristic familial minor malformation, particularly of the hands, allow recognition of a number of these familial cases. The recurrence risks for coronal synostosis are discussed.

Abnormalities, Multiple↗
PubMed1977

A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect.

A case of severe lethal neonatal dwarfism is reported. It appears to be a new variety of short rib-polydactyly dwarfism. It is characterized by severe lack of ossification of all bones except the clavicle and the presence of cleft palate, as well as genitourinary, central nervous system and cardiovascular anomalies. Electronmicroscopy revealed accumulations of granular material in the chondrocytes.

Abnormalities, Multiple↗
PubMed1980

Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins.

A set of like-sexed male twins with the same malformation syndrome and exhibiting identical anomalous alterations of the craniofacial complex were studied in detail. The right and left coronal and left lamboidal sutures were prematurely synostosed in both specimens. The cranial base exhibited a mediolateral asymmetry, with the right half larger than the left. The occipital bone demonstrated the greatest abnormality, including bilateral clefting of the basioccipital component and alterations in the size and shape of the exoccipital bone. In lateral view, the cranial base was flattened and the ventral flexure occurred between the two components of the basioccipital. The odontoid process of the second cervical vertebra was rotated anteroinferiorly and formed part of the cranial floor. Histologically, the bilateral clefts of the basioccipital bone were united by fibrous connective tissue, and the central area of union contained chondroid-like bone. The cartilaginous spheno-occipital synchondrosis and the epiphyseal cartilage of the finger demonstrated similar dystrophic alterations. The brain was normal but exhibited external cerebral deformation secondary to aberrant skull shape.

Abnormalities, Multiple↗
PubMed1994

Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy.

We analyzed data from a population-based case control study to determine whether maternal prenatal smoking or alcohol drinking might increase the risk of craniosynostosis. Between 1986 and 1989, the Colorado Craniosynostosis Registry ascertained 233 children whose diagnoses were confirmed by an independent radiologist. Of the 212 (91%) cases who participated 86 had lambdoid, 69 had sagittal, 25 had coronal, 18 had metopic, and 14 had multiple suture synostosis. Random sampling of birth certificate records yielded 367 eligible controls, of whom 291 (79%) participated. Study staff interviewed case and control mothers between 1989 and 1991 for prenatal smoking and alcohol drinking. We used Mantel-Haenszel and polychotomous logistic regression techniques to estimate the relative odds of craniosynostosis for smoking and drinking in all cases and in relevant case subgroups. Smoking was associated with a relative odds of craniosynostosis of 1.7 (95% confidence interval, 1.2-2.6). For smoking of more than one pack per day, the relative odds were 3.5 (1.5-8.4) for all types of synostosis combined, and 5.6 (2.1-15.3) for coronal synostosis. No strong or significant association was noted for drinking. Maternal prenatal smoking may increase the risk of craniosynostosis in this population.

Adult↗
PubMed2005

Three-dimensional sonographic description of the fetal frontal bones and metopic suture.

OBJECTIVE: To describe the morphology of the frontal bones and metopic suture at 9-34 weeks of gestation using three-dimensional (3D) ultrasonography. METHODS: This was a cross-sectional study of the frontal bones and metopic suture in 16 fetuses at 9-34 weeks of gestation. 3D ultrasonography was used to obtain volumes of the whole fetal skull in the mid-sagittal plane. The volumes were analyzed using the rendering mode and transparent maximum mode in order to achieve a clear view of the frontal bones and the metopic suture. RESULTS: At 9 weeks, a small ossification center was visible in the middle of each supraorbital part of the frontal bones and by 11 weeks the frontal bones appeared as 'thick eyebrows'. In the second trimester there was progressive radial bone expansion and delineation of the metopic suture and in the third trimester there was closure of the metopic suture, starting from the glabella and moving upwards towards the anterior fontanelle. CONCLUSIONS: This study provides 3D ultrasound images that illustrate the process of ossification of the frontal bones and the subsequent development of the metopic suture during prenatal life.

Cranial Sutures↗