Reproductive system
A Stewart Whitley, Jan Dodgeon, Angela Meadows, Jane Cullingworth, Ken Holmes, Marcus Jackson, Graham Hoadley, Randeep Kumar Kulshrestha in Clark’s Procedures in Diagnostic Imaging: A System-Based Approach, 2020
Other fetal anatomy checked during the assessment includes the limbs, abdominal organs and the chest, including the heart and cardiac outflow tracts. Specifically, 11 conditions have been agreed as detectable by the FASP and the detection rates of these are audited [78]. These conditions are: Anencephaly.Open spina bifida.Cleft lip.Diaphragmatic hernia.Gastroschisis.Exomphalos.Serious cardiac abnormalities.Bilateral renal agenesis.Lethal skeletal dysplasia.Edwards’ syndrome (Trisomy 18).Patau’s syndrome (Trisomy 13).
Developmental and Acquired Disorders of The Spine
Milosh Perovitch in Radiological Evaluation of the Spinal Cord, 2019
Twenty-nine dwarfed patients with congenital dysplasia of the odontoid process, ranging between 3 and 36 years of age, represented the initial group of patients evaluated clinically and radiologically.7 Eight different types of skeletal dysplasia were the cause of dwarfism. Ten patients had mucopolysaccharidosis IV (MPS IV) (Morquio's syndrome), three had Morquio's syndrome type II (nonkeratan sulfate-excreting Morquio's syndrome), four suffered from pseudoanchondroplastic dysplasia, three were marked for Scott's syndrome, one had spondylometaphyseal dysplasia, another three showed metaphyseal chondrodysplasia type McKusick, two were found to have spondyloepiphyseal dysplasia congenita, and the remaining three were dwarfs of an unclassified type. Out of 29 patients (75%) who had atlanto-axial instability, 15 (51%) had clinical signs of myelopathy. The earliest and most prominent sign of myelopathy, present even before the appearance of pyrimidal tract signs, was the progressive decrease in physical endurance. Pyrimidal tract signs of variable intensity appeared rather late and were present in 12 of these 15 patients. Posterior column signs and sphincter disturbances were present in two patients (Figure 1).
Diagnosis of fetal skeletal dysplasias
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Skeletal dysplasias are a group of heterogeneous and complex, largely genetic disorders affecting bone growth and development and resulting in abnormalities of bone size, shape and density. Despite recent advances in imaging modalities and molecular genetics, accurate in utero diagnosis may be difficult. Some of the factors that make diagnosis difficult are: the large number of conditions (there are more than 450 skeletal dysplasias and many more syndromes with significant skeletal involvement)phenotypic variability within an individual conditionoverlapping features between conditionsin utero evolution of changeslack of a systematic approach.
An Exploration of Sexual Health Education Among Individuals with Skeletal Dysplasia (Dwarfism)
Published in American Journal of Sexuality Education, 2018
Individuals with dwarfism have a disability and are a minority group, but they are not always viewed as such, possibly because they are seen to be living productive lives (Shakespeare, Thompson, & Wright, 2010). Many individuals with dwarfism do not identify as having a disability (Shakespeare et al., 2010). Approximately 200 forms of dwarfism exist, which affects about 1 in 15,000 individuals (Bonafe et al., 2015; Sewell et al., 2015; Thompson, Shakespeare, & Wright, 2008). Dwarfism refers to skeletal dysplasia, a class of medical conditions that involves skeletal abnormalities of bone and cartilage. Disproportionate skeletal dysplasia is when limbs are not sized to a person's trunk, and proportionate skeletal dysplasia is when the person has limbs that match the trunk, but is short in stature (Bonafe et al., 2015; Sewell et al., 2015). Achondroplasia is the most common and best studied form of skeletal dysplasia, affecting 1 in 26,000 births (Bonafe et al., 2015; Sewell et al., 2015). Each type of skeletal dysplasia is associated with a set of physical or functional difficulties, which can include spinal cord problems, obesity, chronic pain, premature arthritis, and osteoporosis (Dhiman et al., 2017; Low, Knudsen, & Sherrill, 1996; Sewell et al., 2015). Many individuals with skeletal dysplasia do not seek services for their physical pain, possibly due to feeling stigmatized by health care providers (Dhiman et al., 2017).
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
Skeletal dysplasia represents a group of heterogeneous inherited connective tissue disorders and includes approximately 400 types of clinical manifestations where the molecular basis of half of these disorders has been identified (6). Among them, FGFR3 gene mutation activates the receptors of long bones to cause changes to endochondral ossification (1). FGFR3 gene-related disorders involve mutations in various domains, which can cause various forms of chondrodysplasias. TD is one of the most common types of lethal skeletal dysplasia, with a prevalence varying between 1:20,000 and 1:60,000 births (7). Therefore, molecular analysis is necessary to definitively diagnose TD (8).
Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins
Published in Journal of Binocular Vision and Ocular Motility, 2022
Catarina Xavier, Miguel Vieira, Ana Filipa Duarte, Ana Xavier, Eduardo D. Silva
Genetic analysis revealed a homozygous variant of the ROBO3 gene, c.767–2_778del, which is the causal pathogenic mutation that supports the clinical diagnosis of HGPPS.12 To our knowledge, this is a unique variant, similar to others previously reported in patients with HGPPS, one of them (c.767–2_776del) in a Portuguese child16 and the other one (c.767–2_775del) in two apparently unrelated patients from the same Cape Verde Island as ours.10 A heterozygous variant of the FLNB gene was also found. Mutations in this gene are associated with skeletal dysplasia, which was not present in our patients. It remains a variant of unknown significance.
Related Knowledge Centers
- Bone
- Cartilage
- Dwarfism
- Dysplasia
- Autosome
- Rare Disease
- Dominance
- Genetic Disorder
- Short Stature
- Pseudoachondroplasia