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Current Opinion in Cardiology Nov 2008Turner syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner... (Review)
Review
PURPOSE OF REVIEW
Turner syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner syndrome is the most common established cause of aortic dissection in young women, but has received little attention outside pediatric literature. This review focuses on emerging knowledge of the characteristics of aortic disease in Turner syndrome in comparison with Marfan-like syndromes and isolated aortic valve disease.
RECENT FINDINGS
The incidence of aortic dissection is significantly increased in individuals with Turner syndrome at all ages, highest during young adult years and in pregnancy. Pediatric patients with dissection have known congenital cardiovascular defects (CHD), but adults often have aortic valve and arch abnormalities detected only by screening cardiac magnetic resonance. Thoracic aortic dilation in Turner syndrome must be evaluated in relation to body surface area. Dilation is most prominent at the ascending aorta, similar to the pattern seen in nonsyndromic bicuspid aortic valve, is equally prevalent (20-30%) in children and adults, and does not seem to be rapidly progressive. Cardiovascular anomalies and risk for aortic dissection in Turner syndrome are strongly linked to a history of fetal lymphedema, evidenced by the presence of neck webbing and shield chest.
SUMMARY
Risk for acute aortic dissection is increased by more than 100-fold in young and middle-aged women with Turner syndrome. Monitoring frequency and treatment modalities are decided on an individual basis until more information on outcomes becomes available.
Topics: Acute Disease; Adult; Age Factors; Aortic Dissection; Aortic Aneurysm, Thoracic; Aortic Coarctation; Chromosomes, Human, X; Female; Heart Defects, Congenital; Humans; Incidence; Mitral Valve; Pregnancy; Pregnancy Complications, Cardiovascular; Risk Assessment; Turner Syndrome
PubMed: 18839441
DOI: 10.1097/hco.0b013e3283129b89 -
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 -
Cureus May 2023Webbed neck deformity is a congenital anomaly that exists in several syndromes. Various techniques for surgically correcting the webbed neck deformity have been...
Webbed neck deformity is a congenital anomaly that exists in several syndromes. Various techniques for surgically correcting the webbed neck deformity have been described in the literature, each comes with its own advantages and disadvantages. The aim of surgery is to achieve normal neck contour and symmetrical hairline, avoid excessive scarring over the anterior and lateral neck, and limit recurrence. In this report, we described our experience in managing a case of Turner syndrome with bilateral webbed neck deformity using the modified five-flap Z-plasty technique.
PubMed: 37346202
DOI: 10.7759/cureus.39312 -
Archives of Disease in Childhood Aug 1934
PubMed: 21031961
DOI: 10.1136/adc.9.52.213 -
Frontiers in Endocrinology 2021Despite different genetic background, Noonan syndrome (NS) shares similar phenotype features to Turner syndrome (TS) such as short stature, webbed neck and congenital... (Comparative Study)
Comparative Study
BACKGROUND
Despite different genetic background, Noonan syndrome (NS) shares similar phenotype features to Turner syndrome (TS) such as short stature, webbed neck and congenital heart defects. TS is an entity with decreased growth hormone (GH) responsiveness. Whether this is found in NS is debated.
METHODS
Data were retrieved from combined intervention studies including 25 children diagnosed with NS, 40 diagnosed with TS, and 45 control children (all prepubertal). NS-children and TS-girls were rhGH treated after investigation of the GH/IGFI-axis. GH was measured with poly- and monoclonal antibodies; 24hGH-profile pattern analysed by PULSAR. The NS-children were randomly assigned to Norditropin 33 or 66 μg/kg/day, and TS-girls were consecutively treated with Genotropin 33 or 66 μg/kg/day.
RESULTS
Higher PULSAR-estimates of 24h-profiles were found in both NS-children and TS-girls compared to controls: Polyclonal GH24h-profile (Mean ± SD) was higher in both groups (44 ± 23mU/L, p<0.01 in NS; 51 ± 47, p<0.001 in TS; compared to 30 ± 23 mU/L in controls) as was GH-baseline (1.4 ± 0.6 mU/L in NS; 2.4 ± 2.4 mU/L in TS, p<0.01 for both, compared to 1.1 ± 1.2 mU/L in controls). Pre-treatment IGFI was 2.2 lower in NS-children (-1.7 ± 1.3) compared to TS-girls (0.6 ± 1.8, p<0.0001). GH, IGFI/IGFBP3-ratio, and chronological age at start of GH accounted for 59% of the variance in first-year growth response in NS.
CONCLUSION
Both prepubertal NS-children and TS-girls had a high GH secretion, but low IGFI/IGFBP3 levels only in NS-children. Both groups presented a broad individual response. NS-children showed higher response in IGFI and growth, pointing to higher responsiveness to GH treatment than TS-girls.
Topics: Body Height; Child; Female; Human Growth Hormone; Humans; Insulin-Like Growth Factor Binding Protein 3; Insulin-Like Growth Factor I; Male; Noonan Syndrome; Phenotype; Turner Syndrome
PubMed: 34858328
DOI: 10.3389/fendo.2021.737893 -
Archives of Endocrinology and Metabolism Nov 2021To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS).
OBJECTIVE
To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS).
METHODS
FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data.
RESULTS
Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings.
CONCLUSION
FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.
Topics: Body Height; Chromosomes; Female; Humans; Mosaicism; Polymerase Chain Reaction; Turner Syndrome
PubMed: 34762780
DOI: 10.20945/2359-3997000000403