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Journal of Cardiovascular Development... Oct 2021Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian... (Review)
Review
Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.
PubMed: 34821691
DOI: 10.3390/jcdd8110138 -
Cold Spring Harbor Molecular Case... Apr 2019Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that...
Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that streamline data processing and analysis. Herein, we describe our experience with implementing a semiautomated and phenotype-driven WES diagnostic workflow, incorporating both the DRAGEN pipeline and the Exomiser variant prioritization tool, at an academic children's hospital with an ethnically diverse pediatric patient population. We achieved a 41% molecular diagnostic rate for 66 duo-, quad-, or trio-WES cases, and 28% for 40 singleton-WES cases. Preliminary results were returned to ordering physicians within 1 wk for 12 of 38 (32%) probands with positive findings, which were instrumental in guiding the appropriate clinical management for a variety of patients, especially in critical care settings. The semiautomated and streamlined WES workflow also enabled us to identify novel variants in candidate disease genes in patients with developmental delay and autism and immune disorders and cancer, including , , , , , and Together, we demonstrated the implementation of a streamlined WES workflow that was successfully applied for both clinical and research purposes.
Topics: Adolescent; Autism Spectrum Disorder; Child; Child, Preschool; Early Diagnosis; Female; Genetic Predisposition to Disease; Humans; Immune System Diseases; Infant; Infant, Newborn; Male; Neoplasms; Sensitivity and Specificity; Time Factors; Exome Sequencing; Workflow; Young Adult
PubMed: 30755392
DOI: 10.1101/mcs.a003756 -
Journal of the American Academy of... Apr 2020Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and...
UNLABELLED
Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings.
CASE PRESENTATION
Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up.
CONCLUSIONS
Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.
Topics: Cervical Vertebrae; Child; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint; Siblings
PubMed: 32377613
DOI: 10.5435/JAAOSGlobal-D-19-00120 -
BMJ Case Reports May 2019Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities,...
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
Topics: Abnormalities, Multiple; Consanguinity; DNA Mutational Analysis; Disease Susceptibility; Fatal Outcome; Genetic Counseling; Genetic Heterogeneity; Humans; Infant, Newborn; Male; Malignant Hyperthermia; Metalloendopeptidases; Mutation; Pedigree; Receptors, Nicotinic; Skin Abnormalities
PubMed: 31068350
DOI: 10.1136/bcr-2018-229045 -
PeerJ 2022Mesosaurs are the first secondarily aquatic amniotes and one of the most enigmatic clades of reptiles from the early Permian. They have long puzzled paleontologists with...
Mesosaurs are the first secondarily aquatic amniotes and one of the most enigmatic clades of reptiles from the early Permian. They have long puzzled paleontologists with their unique morphologies: possessing an elongated skull with thin needle-like teeth, a long neck, large webbed hindlimbs, banana-shaped pachyosteosclerotic ribs, and a long tail. Here, we look at a large dataset of morphometric measurements from 270 mesosaur specimens in collections around the world. These measurements characterize skull, tooth, and limb proportions and their variation with size. This data presents evidence of surprising ontogenetic changes in these animals as well as new insights into their taxonomy. Our results support the recent hypothesis that is the only valid species within Mesosauridae and suggest that "" and "" represent immature stages or incomplete specimens of by showing that all three species occupy an incomplete portion of the overall size range of mesosaurs. Under the single-species hypothesis, we highlight a number of ontogenetic trends: (1) a reduction in skull length accompanied by an elongation of the snout within the skull, (2) an elongation of teeth, (3) a reduction in hind limb length, and (4) a reduction in manus length. Concurrent with these changes, we hypothesize that mesosaurs went through a progressive ecological shift during their growth, with juveniles being more common in shallow water deposits, whereas large adults are more frequent in pelagic sediments. These parallel changes suggest that mesosaurs underwent a diet and lifestyle transition during ontogeny, from an active predatory lifestyle as juveniles to a more filter-feeding diet as adults. We propose that this change in lifestyle and environments may have been driven by the pursuit of different food sources, but a better understanding of the Irati Sea fauna will be necessary to obtain a more definitive answer to the question of young mesosaur diet.
Topics: Animals; Skull; Reptiles; Tooth; Head; Diet
PubMed: 36132215
DOI: 10.7717/peerj.13866 -
Molecular Genetics & Genomic Medicine Apr 2020Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and...
BACKGROUND
Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuropsychological and behavioral studies explored alteration of cognitive functioning and related domains, such as learning, memory, and attention. To our knowledge, however, data concerning the language profile in this disorder is scarce. The aim of the present study was to detect specific language functioning combining nonverbal intelligence quotient and language abilities and to pinpoint strengths and weaknesses in the language domains.
METHODS
The language profile of 37 Italian participants with molecularly confirmed diagnosis of Noonan Syndrome was evaluated using specific tools to assess vocabulary and grammar comprehension and production, as well as phonological development.
RESULTS
We observed that 78% of affected individuals exhibited language impairment. Within language domains, the strong area was lexical production and grammar production was the weak area. Almost half the participants manifested a similar trend of specific language impairment. Nonverbal intelligence quotient only correlated with grammar comprehension.
CONCLUSION
Our study expands present knowledge about the language profile in NS, and provides data that could enable more effective patient management and appropriate intervention.
Topics: Adolescent; Child; Child, Preschool; Comprehension; Female; Humans; Intelligence Tests; Language Development Disorders; Language Tests; Male; Noonan Syndrome; Protein Tyrosine Phosphatase, Non-Receptor Type 11
PubMed: 32059087
DOI: 10.1002/mgg3.1069 -
International Journal of Environmental... Oct 2019Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not...
Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.
Topics: Adolescent; Adult; Child; Female; Humans; Middle Aged; Touch; Touch Perception; Turner Syndrome; Young Adult
PubMed: 31614840
DOI: 10.3390/ijerph16203870