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Your search keyword '"Angela F, Brady"' showing total 6 results
Start Over Author "Angela F, Brady" Journal clinical dysmorphology
6 results on '"Angela F, Brady"'

1. A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

Author

Angela F Brady, Elisa De Franco, Fleur S. van Dijk, Sian Ellard, F. M. Pope, Elizabeth Oakley-Hannibal, and Neeti Ghali

Subjects
business.industry, General Medicine, Neuromuscular Diseases, medicine.disease, Bioinformatics, Ion Channels, Pathology and Forensic Medicine, Frameshift mutation, Scoliosis, Ehlers–Danlos syndrome, Pediatrics, Perinatology and Child Health, PIEZO2 Gene, medicine, Humans, Ehlers-Danlos Syndrome, Female, Kyphosis, Anatomy, Differential diagnosis, business, Child, Frameshift Mutation, Genetics (clinical)
Published
2019

2. Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder

Author

Michele Cruwys, Ewa Raglan, Angela F. Brady, Peter Loshe, Kaukab Rajput, Amanda J. Kilsby, Isabelle Russell-Eggitt, and Chelvi Kukendrajah

Subjects
Male, Heterozygote, medicine.medical_specialty, Developmental Disabilities, DNA Mutational Analysis, Deafness, Pathology and Forensic Medicine, Exon, Depigmentation, alpha-Thalassemia, Humans, Medicine, Genetics (clinical), Genetics, Comparative Genomic Hybridization, business.industry, Piebaldism, Homozygote, Infant, Newborn, Infant, Heterozygote advantage, Exons, General Medicine, Kit mutation, medicine.disease, Dermatology, Proto-Oncogene Proteins c-kit, Child Development Disorders, Pervasive, Autism spectrum disorder, Pediatrics, Perinatology and Child Health, Anatomy, medicine.symptom, business, Comparative genomic hybridization
Published
2013
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3. Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?

Author

Tatnall Fm, Robin M. Winter, Sheridan Rj, Angela F. Brady, Louise C. Wilson, and Garrett C

Subjects
Male, Adolescent, Genes, Recessive, Goldenhar syndrome, Consanguinity, Deafness, Müllerian mimicry, Pathology and Forensic Medicine, Acro-Osteolysis, Diagnosis, Differential, Variable Expression, medicine, Humans, Abnormalities, Multiple, Mullerian Ducts, Genetics (clinical), business.industry, General Medicine, Anatomy, Middle Aged, medicine.disease, Pedigree, Hemifacial microsomia, Dysplasia, Face, Atresia, Pediatrics, Perinatology and Child Health, Female, business, Ear Canal
Abstract

We report the combination of hemifacial microsomia, external auditory canal atresia, deafness and acro-osteolysis in several members of a highly consanguineous Asian family. In addition Mullerian anomalies have been found in two female members of the family. The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J Pediatr 72 : 88-93] and overlap with those found in Goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MURCS), CHARGE and VATER associations. However, to the authors' knowledge, acro-osteolysis has not been reported in patients with any of these conditions. Overall, the findings in this family appear to be unique and the presence of consanguinity suggests an autosomal recessive condition with variable expression.

Published
2002
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4. Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) ??? evidence for possible autosomal recessive inheritance

Author

Angela F. Brady and M A Patton

Subjects
Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, media_common.quotation_subject, Genes, Recessive, Pathology and Forensic Medicine, Locus heterogeneity, medicine, Humans, Child, skin and connective tissue diseases, Multiple fractures, Genetics (clinical), media_common, Arthrogryposis, Genetics, Daughter, First Cousin, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, business.industry, Infant, Syndrome, General Medicine, Osteogenesis Imperfecta, medicine.disease, Osteogenesis imperfecta, Pediatrics, Perinatology and Child Health, Female, Anatomy, business, Bruck syndrome
Abstract

We report a son and a daughter of a first cousin Pakistani marriage who both have osteogenesis imperfecta and the son in addition has arthrogryposis multiplex congenita. Bruck [(1897): Dtsch Med Wochenschr 23: 152-155] first reported the case of a boy who had multiple fractures and joint ankylosis, subsequently only one sibship with three affected cases and seven sporadic cases have been reported to our knowledge. On the basis of consanguinity this suggests that the association of osteogenesis imperfecta and arthrogryposis multiplex congenita is inherited in this family as an autosomal recessive condition with variable expression.

Published
1997
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5. Griscelli syndrome type 1: a report of two cases and review of the literature

Author

Sunil Pullaperuma, Beatrice Cooper, Ellen R A Thomas, Angela F. Brady, Mohnish Suri, Lisa J. Walker, Geneviéve de Saint Basile, and Louise Brueton

Subjects
Male, medicine.medical_specialty, business.industry, Infant, Genes, Recessive, General Medicine, Syndrome, Dermatology, Pathology and Forensic Medicine, Pedigree, Griscelli syndrome type 1, Pediatrics, Perinatology and Child Health, Medicine, Humans, Abnormalities, Multiple, Female, Anatomy, business, Genetics (clinical)
Published
2009

6. Mild case of Curry-Jones syndrome

Author

Emma Wakeling, Ellen R A Thomas, Angela F. Brady, FR Goodman, John C Dickinson, and Christine Hall

Subjects
Male, Foot Deformities, Congenital, Curry Jones syndrome, Preoperative care, Microphthalmia, Pathology and Forensic Medicine, Craniosynostosis, Preoperative Care, medicine, Humans, Abnormalities, Multiple, Syndactyly, Genetics (clinical), Hand deformity, Polydactyly, business.industry, Infant, General Medicine, Anatomy, Syndrome, medicine.disease, Polysyndactyly, Child, Preschool, Pediatrics, Perinatology and Child Health, sense organs, business, Hand Deformities, Congenital
Abstract

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.

Published
2006

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