Cases reported "Dysostoses"

Filter by keywords:



Retrieving documents. Please wait...

11/91. Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.

    We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns. ( info)

12/91. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism.

    Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation. Previous publications have suggested that it may be difficult to distinguish acrodystostosis from pseudohypoparathyroidism on clinical grounds, but acrodysostosis does appear to have distinct clinical and radiologic findings. spinal stenosis is an underappreciated risk in acrodysostosis, despite the reported loss of normal caudal widening of the lumbar interpediculate distance on AP spine radiographs in the original report of this disorder by Robinow et al., with confirmation of these radiographic findings by Butler et al. We report two sporadic cases of acrodysostosis, one of which required decompressive laminectomy for symptomatic spinal stenosis, and review 11 cases of acrodysostosis from 9 families that were submitted to the International Skeletal Dysplasia Registry. The objective of this report is to determine the frequency and severity of spinal stenosis in patients with acrodysostosis and to summarize the clinical and radiographic findings of acrodysostosis in an effort to distinguish acrodysostosis clearly from pseudohypoparathyroidism. The pattern of brachydactyly differs between these two conditions, and varying degrees of spinal stenosis are characteristic of acrodysostosis. Both our index patients with acrodysostosis had normal bioactivity of the alpha subunit of the Gs protein, therefore indicating that acrodysostosis has a different pathogenesis from pseudohypoparathyroidism. Furthermore, single-strand confirmational polymorphism (SSCP) analysis failed to demonstrate any confirmational alterations in the coding exons of the Gs alpha gene. These radiographic and laboratory findings substantiate that acrodysostosis is clinically different from pseudohypoparathyroidism and that it is necessary to follow patients with acrodysostosis for signs of spinal stenosis. ( info)

13/91. Pyknodysostosis--a report of two cases with a brief review of the literature.

    Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature. ( info)

14/91. Extraskeletical malformations in the Jarcho-Levin syndrome: postmortem study of three cases.

    We report on pathologic examination of three autopsied newborns with Jarcho-Levin syndrome. The most important abnormalities noted were multiple extraskeletical defects such as cardiovascular, urogenital, respiratory, and central nervous system malformations. These cases add new information to the multiple vertebral segmentation defects found in this syndrome. ( info)

15/91. Extraneurologic symptoms as presenting signs of Sanfilippo disease.

    Sanfilippo disease, or mucopolysaccharidosis type III, results from the deficiency of lysosomal hydrolases, which impairs heparan sulfate metabolism. Clinically, the disease is characterized by a mild somatic phenotype combined with early severe neurodegenerative illness with prominent behavioral disturbance. We report clinical and molecular findings of a child with Sanfilippo disease type B (alpha-N>-acetylglucosaminidase deficiency) who presented at age 18 months with marked systemic involvement and normal initial psychomotor development. These findings suggest that atypical mucopolysaccharidosis type III patients may present with early somatic changes preceding the onset of overt neurologic symptoms and ensuring an early diagnosis and possible therapeutic intervention. ( info)

16/91. Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder.

    A 3-year-old girl was admitted to our department with spina bifida occulta. At birth, thoracic dysplasia with severe respiratory dysfunction and a soft pedunculated mass connecting with an intradural mass were noted. The patient did not start to walk and partial removal of the intradural mass was performed via a laminectomy of the fused vertebrae. There was no boundary between the spinal cord and the mass and the histological diagnosis of this mass was connective tissue. The anomalies in this case were considered to be multiple vertebral segmentation disorder (MVSD) and limited dorsal myeloschisis. The coincidence of these anomalies might suggest the causal genesis of MVSD. ( info)

17/91. Tethered cord in a patient with multiple vertebral segmentation defects: a case report.

    Short trunk dwarfism with multiple vertebral segmentation defects (MVSD) represents a heterogeneous group of disorders characterized by the presence of multiple vertebral and rib abnormalities. A two and one-half year-old female with the spondylothoracic dysostosisform of MVSD is presented. In addition to skeletal anomalies, a lumbar hemangioma, bilateral foot deformities, distal leg atrophy and weakness, and areflexia at the ankles were present. An underlying neuropathic process was suspected. Results of urodynamic studies were suggestive of a neurogenic bladder. magnetic resonance imaging of the spine demonstrated a tethered spinal cord. Although various brain and spinal cord anomalies have been described in MVSD, this is the first reported case, to our knowledge, of a tethered spinal cord in a patient with MVSD. We recommend that the management of patients with MVSD include comprehensive neurological evaluation and monitoring with appropriate electrodiagnostic, urodynamic, and neuroimaging studies. ( info)

18/91. Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.

    We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before. ( info)

19/91. Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.

    We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. history of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies. ( info)

20/91. Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

    Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the spondylocostal dysostoses that are characterized by multiple vertebral segmentation defects and rib anomalies. In these patients, the entire vertebral column is malformed and is replaced by multiple hemivertebrae giving rise to truncal shortening, abdominal protrusion and non-progressive spinal curvature. Genetic studies have shown that some cases of ARSCD are due to mutations in the somitogenesis gene, Delta-like 3 (DLL3), that encodes a ligand for the Notch signalling pathway-ARSCD type 1. To date, 17 different DLL3 gene mutations have been reported. A consanguineous family of Turkish origin with ARSCD type 1 due to a homozygous DLL3 mutation requested genetic prenatal diagnosis. Using dna from a chorionic villus sample, both linkage analysis of the DLL3/19q region and direct sequencing for the familial mutation demonstrated that the unborn fetus was an unaffected carrier. This is the first case of molecular genetic prenatal diagnosis in any form of SCD. ( info)
<- Previous || Next ->


Leave a message about 'Dysostoses'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.