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Christine M Hall

Publications and source records attributed to Christine M Hall.

At least 19 recordsLinked to original sources
PubMed2006

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the low-mutation detection rate was partially due to misdiagnosis. We therefore instituted a clinical-radiographic review system, whereby all cases were evaluated by a panel of skeletal dysplasia experts (European Skeletal Dysplasia Network). Only those patients in whom the diagnosis of MED was confirmed by the panel were screened for mutations. Under this regimen the mutation detection rate increased to 81%. When clinical-radiological diagnostic criteria were relaxed the mutation rate dropped to 67%. We conclude that expert clinical-radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias.

Adult↗
PubMed2006

Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies.

OBJECTIVE: To define the sonographic features of spondyloepiphyseal dysplasia congenita (SEDC) and the double heterozygote for SEDC and achondroplasia. METHODS: A retrospective review of 6 pregnancies in one family where one parent has achondroplasia and the other SEDC. RESULTS: There were 4 double heterozygote pregnancies and 2 where the fetus had SEDC. Shortening of long bones was evident in both conditions from around 16 weeks gestation. Other findings such as an increased nuchal translucency were more variable. CONCLUSIONS: Molecular analysis of the FGFR3 and COL2AI gene once mutations are known in a family such as reported here can inform prenatal diagnosis and help to distinguish between the double heterozygote and a fetus which has inherited a single mutation. The data presented here on the growth of the long bones and other sonographic features associated with SEDC may aid prenatal diagnosis in cases where the mutation is not known.

Achondroplasia↗
PubMed2006

Mild case of Curry-Jones syndrome.

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.

Abnormalities, Multiple↗
PubMed2006

Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.

Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.

Abnormalities, Multiple↗
PubMed2006

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.

We report a family with an unusual form of autosomal dominant spondyloepiphyseal dysplasia characterized by infantile-onset disproportionate short stature with relative shortening of the spine, thoracic kyphosis, lumbar lordosis, scoliosis and premature osteoarthritis of the joints especially of the hips. Radiological findings include mild platyspondyly, vertebral end plate irregularity, irregular femoral necks, and dysplasia of the capital femoral epiphyses with flattening and irregularity present from childhood and mild variable epiphyseal dysplasia elsewhere in the skeleton. Intrafamilial variability is observed in the degree of short stature, severity of spinal and hip involvement and the age of onset of symptoms and complications. We demonstrate that this dysplasia is due to a glycine to alanine substitution in the COL2A1 gene (p.Gly862Ala), thereby expanding the phenotypic spectrum of dysplasias associated with defects in type II collagen.

Adolescent↗
PubMed2005

Are stem cell characteristics altered by disease state?

Autologous stem cell transplantation combined with gene therapy can potentially be used to treat genetically inherited diseases. However, characterization of multipotential cells from a disease state remains extremely limited. We have characterized adult bone marrow stromal cells (MSCs) derived from three retinal degenerative mouse models and compared them to marrow stromal cells derived from their normal strain counterparts. Despite similar profiles soon after harvest, at 30 days postisolation, marrow stromal cells derived from a disease origin were shown to contain a large pool (approximately 89-99%) of undifferentiated marrow stromal cells (CD90(+)/STRO-1(+)) as compared to their normal counterparts (approximately 19-43%). Fetal bovine serum appeared essential for marrow stromal cell proliferation and was not found to induce differentiation, although it could be substituted with other additives including epidermal growth factor (EGF), platelet-derived growth factor (PDGF), and leukemia inhibitory factor (LIF). We also showed that resulting CD90(+)/STRO(+) cells derived from both states could be directed into desired lineages expressing at the same rate and that they could be transduced with the same efficiency using different viral vehicles. This investigation has shown the existence of a large pool of undifferentiated stem cells derived from the disease state that have the potential to form the desired cell types when appropriately cued.

Adipocytes↗
PubMed2005

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy.

OBJECTIVE: The objective of our article was to highlight the important clinical and radiographic features of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. In particular, we emphasize those features that allow differentiation of CACP syndrome from juvenile idiopathic arthropathy. CONCLUSION: CACP syndrome should be considered in all patients who present with a noninflammatory arthropathy or with "atypical juvenile idiopathic arthritis," particularly if radiographs reveal an absence of erosions. In the correct clinical setting, large acetabular cysts on pelvic radiographs may be considered pathognomonic of CACP syndrome.

Adolescent↗
PubMed2004

Skeletal injuries associated with sexual abuse.

BACKGROUND: Sexual abuse is often associated with physical abuse, the most common injuries being bruising and other soft-tissue injuries, but fractures occur in 5% of sexually abused children. The fractures described to date have formed part of the spectrum of injuries in these children and have not been specifically related to the abusive act. OBJECTIVE: To describe concurrent sexual abuse and fractures. MATERIALS AND METHODS: Three children with pelvic or femoral shaft injuries in association with sexual abuse. RESULTS: A 3-year-old girl with extensive soft-tissue injuries to the arms, legs and perineum also sustained fractures of both pubic rami and the sacral side of the right sacro-iliac joint. A 5-month-old girl with an introital tear was shown to have an undisplaced left femoral shaft fracture. A 5-year-old girl presented with an acute abdomen and pneumoperitoneum due to a ruptured rectum following sexual abuse. She had old healed fractures of both pubic rami with disruption of the symphysis pubis. CONCLUSIONS: Although the finding of a perineal injury in a young child may be significant enough for the diagnosis of abuse, additional skeletal injuries revealed by radiography will assist in confirmation of that diagnosis and may be more common than hitherto suspected.

Child Abuse, Sexual↗
PubMed2004

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple dislocations of the large joints including the knees, and dysmorphic features including a short and upturned nose with a depressed nasal bridge and midface hypoplasia. An autosomal dominant mode of inheritance has been suggested. We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature.

Abnormalities, Multiple↗
PubMed2004

Congenital cardiac disease as a core feature of cranio-osteoarthropathy.

Cranio-osteoarthropathy is a rare condition. Classically, signs are identifiable in infancy with clubbing of fingers, and delayed closure of the clinically enlarged cranial sutures, followed by periosteal new bone formation on X-rays of the long bones. Ultimately, joint swelling and stiffness follow, typically involving the large joints. We report two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease. Moreover, the cases reported here, manifesting significant differences in radiological features, emphasize the variability of radiological findings which can attend this condition.

Ankle↗
PubMed2003

Metatropic dysplasia lethal variants.

BACKGROUND: The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (various forms). The overlapping features of this group with other dysplasias may cause diagnostic confusion, particularly in perinatal lethal cases. OBJECTIVE: To attempt to classify the radiological findings of the presented eight sporadic cases based on a broad review of the perinatally lethal metatropic group of conditions and to discuss some overlapping features in the light of current knowledge. RESULTS: The first four cases are of recognised conditions, namely lethal metatropic dysplasia (Type 2) or hyperchondrogenesis, lethal hyperplastic metatropic dysplasia (Type 1) and fibrochondrogenesis. The remaining four cases cannot be categorised accurately and are different from each other but with some features of the metatropic group of dysplasias. CONCLUSIONS: The dysplasias within the metatropic dysplasia group are phenotypically distinct from many forms of chondrodysplasia but the pathogenesis still remains poorly understood from the morphological and molecular perspectives. Chondro-osseous morphology might be helpful in all lethal cases especially in our last four cases.

Bone and Bones↗
PubMed2003

Paternal uniparental disomy 14: introducing the "coat-hanger" sign.

Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the "coat-hanger" configuration of the ribs on the chest radiograph), suggested a diagnosis of patUPD14, which was confirmed following DNA analysis. The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation.

Abnormalities, Multiple↗
PubMed2002

Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?

Although many constitutional disorders of bone are individually rare, collectively they make up a large group of disorders. They are broadly classified into osteochondrodysplasias and dysostoses. Because of the rarity of some of these conditions, they can be difficult to diagnose. Members of the International Dysplasia Group meet regularly to update and clarify the nomenclature. The last meeting was in Oxford in 2001. This article attempts to highlight the differences between the osteochondrodysplasias and the dysostoses, and provides a systematic approach to their radiological diagnosis.

Bone Diseases, Developmental↗
PubMed2002

International nosology and classification of constitutional disorders of bone (2001).

The last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups).

Bone Diseases, Developmental↗