SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
This report is on a mentally retarded, male child with multiple anomalies: sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th toes and perineoscrotal hypospadias.
This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a "new" probably monogenic syndrome.
A pre-term infant was born with multiple limb and craniofacial anomalies, including craniosynostosis and a nasopharyngeal adenohypophysis. Severe hydrocephalus of the lateral and third ventricles was attributed to cerebral aqueductal dysgenesis. Scattered aqueductules and ependymal rosettes were found throughout the midbrain and pontine tegmentum. An hypothesis to explain the unique constellation of craniocerebral findings is discussed.
Twenty-three cases of craniosynostosis were studied with regard to age at operation, symptoms, operative methods, and long-term results. Long-term results of 20 cases that were followed up for more than 1 year after surgery showed that mental retardation remained in 8 cases; a slight improvement in mental function was observed in only 2 cases. Of the 8 patients with mental retardation, 7 were operated on more than 6 months after birth, 7 showed striking digital impression on skull X-ray films and 5 were suffering from oxycephaly. Of the 8 patients with mental retardation, 5 had suffered from perinatal asphyxia or had seizures during delivery and subsequent past history. From these observations, factors affecting prognosis are: (1) age at operation; (2) the degree and duration of increased intracranial pressure; (3) the extent and degree of suture closures; (4) perinatal asphyxia and seizure disorders.
A patient is described in whom the diagnosis of I-cell disease (mucolipidosis II) was established in early infancy. This patient developed the clinical symptoms and signs of craniosynostosis and hydrocephalus at 4 years of age. Radiological studies revealed premature closure of the metopic, coronal and sagittal sutures, and internal hydrocephalus secondary to obstruction of the cerebrospinal fluid pathway at the IV ventricle outlets. In view of the poor visual recovery in spite of surgical correction, early detection of neurological complications and their prompt managements are recommended.
Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.
This article reviews recent molecular genetic findings in autosomal dominant craniosynostotic syndromes. A mutation in the homeotic gene MSX2 was the first genetic defect identified in an autosomal dominant primary craniosynostosis, i.e. in craniosynostosis type 2 (Boston type). In the more common syndromes of Crouzon, Pfeiffer, Jackson-Weiss, and Apert, mutations were found in the gene coding for fibroblast growth factor receptor (FGFR) 2. Less frequently, mutations are observed in FGFR1 and FGFR3 in some cases of Crouzon and Pfeiffer syndrome. The mutations identified in FGFR2 are located in exons 5 and 7 of the gene that code for immunoglobulin (Ig)-like chain III and the region linking Ig II and Ig III of the receptor. These domains of the receptor are important for ligand binding. Apart from Apert syndrome, identical mutations are found in the clinically distinct syndromes of Crouzon, Pfeiffer, and Jackson-Weiss. Furthermore, the same gene defect can result in a highly variable phenotype even within one family. Therefore, the clinically distinct craniosynostotic syndromes are extremes of a spectrum of craniofacial abnormalities and not nosologic entities. In Saethre-Chotzen syndrome, the gene coding for transcription factor TWIST is mutated. The disease genes identified in craniosynostotic syndromes to date either regulate transcription or are required for signal transduction and play a central role in the development of the calvarial sutures.
Explore the source record for details and available documents.
Optic nerve (ON) damage especially from papilloedema can be prevented with timely detection. The detailed ocular and radiographic status of 33 unoperated craniosynostosis (CS) was documented prospectively; the ON was also assessed by flash VER and A-scan echography for ON thickness. Fluorescein angiography (FA) was done for all suspected and early papilloedemas. ON involvement diagnosed in 10/33 showed highly significant correlations with multiple suture synostoses (p = 0.004) and exorbitism (p < 0.001). VER latency was increased in all 5 ON atrophies; and also in 1/5 papilloedemas without atrophic changes, urgent surgery in which reversed VER changes, and vision later improved from 6/60 to 6/9. FA was valuable for confirming the clinical diagnosis of the earliest papilloedemas; the FA also returned to normal with immediate therapy along with reversal of the clinical picture. ON echography especially helped in monitoring regression of disc oedema. Ours seems the first report especially in CS where a critical follow-up of all above parameters in 21 operated/33 could objectively establish the role of each investigation in conjunction with careful clinical monitoring especially of the ON head. Such comprehensive evaluation should help reduce the blindness often seen in such children.
A high frequency of spontaneous chromosomal breakage, endomitosis, endoreduplication and hypersensitivity toward both the alkylating agent Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like facies, and moderate mental retardation. We also observed abnormal chromosomal spiralization and some aspects of abnormal cellular division. Several fruitless attempts were made to establish a cell line. The parents were consanguineous, supporting the existence of a new, rare, autosomal, recessive condition in man. The mutation might involve a gene involved in DNA repair and/or regulation of the mitotic cycle.
Explore the source record for details and available documents.
We report a patient with occipital flattening attributed to lambdoid synostosis on the basis of perisutural sclerosis. The lambdoid suture was patent at surgery and by histology. Specimen radiography showed no perisutural sclerosis. This case questions the validity of peri- sutural sclerosis as a radiographic indicator of impending lambdoid synostosis.
We report the case of a Japanese boy whose dysmorphic features were consistent with those of Shprintzen-Goldberg syndrome. The radiological features were characterized by late-onset craniosynostosis, arachnodactyly, undermodeling of short tubular bones, mildly undermodeled and slightly bowed long bones, twisted ribs and tall vertebral bodies with elongated neural arches. Apart from the craniosynostosis, these skeletal changes resembled those of frontometaphyseal dysplasia, a well-known craniotubular dysplasia. Shprintzen-Goldberg syndrome also shares many clinical features with frontometaphyseal dysplasia.
A retrospective analysis of a consecutive series of 52 cases with premature craniosynostosis is presented. Excellent functional, cosmetic, and social results could be achieved by resection of prematurely fused sutures and the creation of artificial growth sutures. Pronounced skull deformities have been corrected using the "basket handle", the "visor plasty", and the "T- bone" techniques or a combination of several of these skull form correction techniques. The surgical correction of the skull base by the "frontal advancement" technique in combination with orbitotomy was only necessary in 2 of our cases and could have been considered in 2 additional cases viewed retrospectively. Our results support the hypothesis that the primary cause of skull deformity is the premature closure of vault sutures and not a primary deformity of the skull base.
One hundred children affected by craniosynostosis were operated on from January 1952 to February 1977. Forty-six patients were operated on within the first year of life, and only 9 after six years of age. In 27 cases only one cranial suture was synostotic (mostly the coronal: 15 cases). In 36 cases two sutures were involved (mostly coronal plus sagittal: 25 cases). In 28 cases all the cranial sutures were involved. Also included in this series are seven cases of Crouzon's, one of Apert's, and one of Carpenter's syndromes. The clinical, radiological, and surgical features of this condition are discussed, and the long-term results are reported.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We present a simple and elegant method of positioning the child's head for repair of craniosynostosis. The Sugita head holder allows large exposure of the calvarium with little risk of injury, dislocation or extensive blood loss caused by venous compression. We operated upon 37 patients (age range, between 3 and 132 months, median age 7 months) and did not observe any complication or lesion caused by positioning.