SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A case of Ostrum Furst Syndrom in 14 years old female with cosmetic neck defect is presented. Ostrum Furst Syndrom comprises platybasia, elements of Klippel-Feil and Sprengel deformity. Developmental background of this condition has been confirmed by radiological and clinical findings.
The patient, a 78-year-old female with history of headache and progressive gait disturbance for almost one year, was admitted to our department because of dysphagia and dysphonia since three months before. Neurological examination revealed nystagmus, cerebellar ataxia, deafness, and vesical incontinence. No cerebral injuries were detected by computed tomography (CT) scan, although Paget's. Disease of Bone (PDB) was suggested, confirmed by biochemical and scintigraphic studies. The plain skull X-ray showed platybasia. As all the disarrangements were not explained by PDB complications alone, nuclear magnetic resonance imaging (MRI) was performed which demonstrated an Arnold-Chiari malformation (ACM) type I, with mild tonsillar herniation and anterior compression of the brainstem due to basilar impression, without syringomyelia. The association of PDB and ACM is a peculiarity seldom reported. The surgical approach was rejected, but the severity of symptoms and osteitis deformans biochemical activity needed a treatment; it was orientated to modify bone turnover using etidronate, a bisphosphonate, which induced clinical improvement and a decrease in serum alkaline phosphatase as well as in other bone resorption markers, without side effects. The good status and biochemical remission have been maintained a year later.
Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G) missense mutations. The mother and daughter have optic nerve colobomas and the daughter has vesicoureteral reflux. The severely affected girl developed renal failure and has bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari 1 malformation. We examined genomic DNA from these individuals by SSCP and sequencing. The mother and daughter had a novel mutation: a contraction in a string of 7 G's to 6 G's in one allele of PAX2, leading to a premature stop codon two amino acids downstream. The severely affected girl had an expansion to 8 G's, leading to a premature stop codon 27 amino acids downstream. The 8 G expansion has been found in other patients without brain anomalies and has occurred spontaneously in a mouse model, PAX2(1Neu). We expand the known phenotype associated with mutations in PAX2 to include brain malformations. The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes.
This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo-auriculo-vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.
Four artificial deformations of the skull (collection of the Laboratoire d'Anthropologie of the Musée de l'Homme) have been analysed in terms of their morphology and osteometry. The study of the endocranial base in the three planes of space was made possible by a computerised three-dimensional reconstruction based on data gathered by CT. These four skulls were paired as regards their shape (2 annular and dolichocephalic and 2 tabular and brachycephalic) and as regards their age (2 skulls of children and 2 of adults). Certain modifications of the base, such as a tendency to platybasia and to an antero-superior tilt of the posterior fossa around an axis passing through the basion, could be observed in the two modalities of deformation studied. The existence of a region little subject to modelling combining the body of the sphenoid and the basilar and lateral portions of the occiput was confirmed as regards the chondrocranium, whereas the peripheral structures of the base were remodelled like the membranous structures of the vault of the neurocranium.
Aneurysms of the cervical vertebral artery (VA) are uncommon; they are often caused by trauma or spontaneous dissection. A fusiform aneurysm without evidence of atherosclerosis or dissection has not been reported previously. A 46-year-old man presented with a pontine infarct. Imaging revealed a fusiform aneurysm of the left VA at the C5-6 level, with occlusion of the basilar artery. Associated minor anomalies included fusion of the vertebral bodies of C5 and C6, cervical rib and platybasia. The left VA arose directly from the aortic arch and entered the transverse foramen at the C4 level. Hyperextension and left lateral flexion of the neck caused kinking of the VA proximal to the aneurysm. Turbulent flow in the aneurysm lumen was noted on angiography.
We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.
Radiological anatomy of the petrous bones and skull base has been studied in a group of 11 patients with X-linked hypophosphataemic osteomalacia and hearing loss, and comparison made with a control group of normal subjects. Patients with X-linked hypophosphataemic osteomalacia were found to have generalised osteosclerosis and thickening of the petrous bone, with some narrowing of the internal auditory meatus, particularly in its mid-portion. No evidence of platybasia nor of basilar impression was found in the hypophosphataemmic group. The aetiology of the hearing loss which occurs in patients with X-linked hypophosphataemic osteomalacia is discussed in relation to the radiological abnormalities described.
A mother and daughter with osteosclerotic dysplasia are described. The daughter had generalized osteosclerosis, flattening of the angles of the mandibles, high-arched palate, mandibular and facial bone hypoplasia, a large sella turcica, and spacious foramen magnum, platybasia, basilar impression, widened spinal cord with enlarged intervertebral foramina, and scalloping of the posterior surfaces of the vertebral bodies. Radiographic contrast studies and operative intervention revealed multiple thoracic and lumbar meningoceles and an "empty" sella, as well as evidence of maldevelopment of the spinal cord, cerebellum, and cerebral cortex. Many of these skeletal features were noted to a lesser degree in the asymptomatic mother.
Osteogenesis imperfecta (OI) is an uncommon inherited systemic disorder of the connective tissues characterized primarily by varying degrees of bony fragility. Consequently, individuals affected by this condition frequently suffer severe skeletal injuries from otherwise innocuous traumatic events. This syndrome has other associated abnormalities, including hydrocephalus and brain stem compression on the basis of cranial developmental defects (platybasia), cardiac and vascular problems, respiratory disease from spinal deformities, vascular fragility, a bleeding disorder caused by an apparent platelet function abnormality, and anesthesia-related hyperpyrexia. A case is presented here of a young girl with advanced OI in whom intraoperative death occurred as a consequence of inadvertent rib fractures, with subsequent uncontrollable hemorrhage. OI may also potentially be mistaken for child abuse by an inexperienced examiner.
Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses. The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a barrel-shaped thorax, a short neck, and mild ocular hypertelorism. The characteristic radiographic features are a generalized delay in ossification, flattening and dysplasia of the vertebral bodies, pelvic dysplasia, and retarded ossification of the femoral head and neck. Other radiographic features of interest to the neurosurgeon may be platybasia, kyphoscoliosis, lumbar hyperlordosis, and odontoid hypoplasia. A case of spondyloepiphyseal dysplasia congenita is presented in which an unstable and markedly dysplastic cervical spine was stabilized with Halifax interlaminar clamps and sublaminar wires. The clinical findings and radiographic features are presented and the etiology and neurosurgical management of spondyloepiphyseal dysplasia congenita are discussed.
OBJECTIVE AND IMPORTANCE: Hajdu-Cheney syndrome is a rare idiopathic bone disease based on a generalized bone dysplasia accompanied by acro-osteolysis. We describe a surgical case of this syndrome that was accompanied by neurological signs associated with cervical syringomyelia. CLINICAL PRESENTATION: A 41-year-old woman was referred to our hospital with mild quadriparesis and sensory disturbance resulting from a car accident. There was a neck injury. She showed almost all of the major characteristic clinical features and roentgenographic findings of Hajdu-Cheney syndrome with syringomyelia. INTERVENTION: Surgical treatment was indicated because of the progressive neurological deficits. Foramen magnum decompression and C1 laminectomy were performed, and the dura was exposed. The dura was opened at the area of the foramen magnum and C1. The occipitocervical posterior fusion was carried out with an iliac bone graft and titanium wires. CONCLUSION: Postoperatively, quadriparesis and sensory disturbance improved and the patient showed improved ambulation. Magnetic resonance imaging disclosed the well-decompressed foramen magnum. The syringomyelia disappeared in the segmental area of C2 and was decreased in the segmental areas of C5-T6. The treatment of this syndrome is symptomatic. In this patient, magnetic resonance imaging disclosed compression of the brain stem by basilar invagination and platybasia, disturbance of cerebrospinal fluid flow at the level of the foramen magnum, and syringomyelia. It was suspected that the obstruction of cerebrospinal fluid flow at the level of foramen magnum caused the cervical syringomyelia. However, the long-term prognosis remains uncertain. Follow-up is necessary to assess the final result of the treatment.
A case of dicephalus, Arnold-Chiari malformation (ACM) and spina bifida was reported in a Japanese Black calf. Both brains and crania showed the same abnormalities as those of the monocephalic cases with ACM and were mirror-images of each other. The common findings were elongation of the brain, caudal displacement and hypoplasia of the cerebellum, dorso-ventral compression of the skull, platybasia, and enlargement of the foramen magnum. The craniolacunia was also found in our case.
A 24-year-old woman suffering from left trigeminal neuralgia presented with the familial occurrence of skeletal anomalies simulating Hajdu-Cheney syndrome. She was of a short stature and had low-set ears, protrusion of the bilateral temporal and occipital bones, platybasia, basilar impression, and dental anomaly. Vertebral angiography disclosed marked displacement to the left and dorsally of the basilar artery, which was confirmed during the operation to have compressed the left trigeminal nerve in the cerebellopontine angle narrowed by the unusually protruded bony structure. Cases of Hajdu-Cheney syndrome have occasionally been reported, a few combined with facial spasm, but Hajdu-Cheney syndrome with trigeminal neuralgia is very rare. The patient's family members were surveyed. The possible cause of the neuralgia with its relation to the osteodysplasia is briefly discussed.
A case of Leopard syndrome with full clinical expression is reported. In addition to the cardinal signs of the syndrome this patient presented some abnormalities which have not been previously described such as macroglossia, multiple dental anomalies, basilar impression and platybasia, megacolon, hypertrophy of clitoris and anal ectopy. The presence of dental anomalies and megacolon may represent involvement of the dental papillae and myenteric plexus favoring the view that the syndrome results from a derangement of the neural crest elements.
BACKGROUND: The chromosome abnormality, deletion of 22q11.2, is one of the most common genetic syndromes. The 22q11.2 deletion syndrome encompasses a wide spectrum of abnormalities including cardiac, palate, and immunological anomalies. The purposes of the current study were (1) to define and determine the frequency of variations of the occiput and cervical spine on plain radiographs in patients with the 22q11.2 deletion syndrome and (2) to postulate the potential clinical importance of these variations. METHODS: Seventy-nine consecutive patients with the 22q11.2 deletion underwent clinical and radiographic evaluation of the occiput and cervical spine. Radiographic studies included lateral plain radiographs of the cervical spine in neutral, flexion, and extension; anteroposterior radiographs; and open-mouth odontoid radiographs. RESULTS: At least one developmental variation of the occiput or cervical spine was observed in every patient. The occipital variations were platybasia in fifty-two (91%) of the fifty-seven patients for whom data were available and basilar impression in two (3%) of the seventy-nine patients. The atlas variations were dysmorphic shape in fifty-nine (75%) of the seventy-nine patients, open posterior arch in forty-seven (59%) of the seventy-nine patients, and occipitalization in two (3%) of the seventy-one patients with adequate radiographs. The axis variations were dysmorphic dens in forty-six (58%) and upswept lamina and posterior elements or "C2 swoosh" in forty-seven (59%) of the seventy-nine patients. Of the seventy-one patients with adequate radiographs, twenty-four (34%) had fusion of C2-C3, fifteen (21%) had fusion of the posterior elements only, and nine (13%) had a complete block fusion. Increased segmental motion was observed in forty (56%) of the seventy-one patients. Thirteen (33%) of the forty patients had increased segmental motion at more than one level. Thirty-one patients (44%) had increased occipitoatlantal motion, seven (10%) had increased atlantoaxial motion, and four had increased C2-C3 motion. Eleven (15%) of the seventy-one patients had increased C3-C4 mobility, always adjacent to a fusion of C2-C3. CONCLUSIONS: Variations of the upper cervical spine, including increased segmental motion, are common in the 22q11.2 deletion syndrome. It is premature to predict the clinical implications of these radiographic findings, but advanced imaging and further observation may be needed to clarify their clinical course.
This 7-year-old boy with Hajdu-Cheney syndrome presented with cervical syringomyelia related to rapidly progressing platybasia. Decompressive craniectomy provided temporary improvement, and his clinical status was eventually stabilized after external immobilization, according to findings at 2.5 years of follow up. In a review of the literature the authors found 57 cases of the syndrome, only three of which were associated with syringomyelia. The youth of the patient, the severe form and rapid course of the disease, and the very specific anatomical conditions related to cranial and facial deformities raised various therapeutic problems.
Sleep apnea is a manifestation which has recently been recognized in anomalies of craniovertebral junction. The main reported cases involve Arnold-Chiari malformation, and clinical manifestation is a central sleep apnea syndrome. The pathophysiological mechanisms of such a sleep apnea are a blunted bulbar chemical drive (in hypercapnic patients) or an increased bulbar chemical drive which destabilizes the breathing pattern during sleep (in normo/hypocapnic patients). As this sleep apnea can be the initial manifestation of a Arnold-Chiari malformation, craniocervical magnetic resonance imaging is recommended when a central sleep apnea without evident aetiology is discovered in a young patient. Other anomalies, such as bone malformations (platybasia for example) or syryngobulbomyelia can be involved. Other respiratory manifestations can be observed such as obstructive sleep apnea syndrome, diaphragmatic or vocal cord paralysis. These manifestations may be life-threatening and may lead to decompressive surgery.