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Industrial Psychiatry Journal 2020Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include...
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed neck, and low set ears. About 10% of the subjects have auditory defects due to sensorineural hearing loss. The patient also has short stature, chest deformity (superior pectus carinatum and inferior pectus excavatum), widely spaced nipples, and delayed puberty. A rare psychiatric manifestation of somnambulism and somniloquy in a case of Noonan syndrome is reported.
PubMed: 34158723
DOI: 10.4103/ipj.ipj_84_19 -
Journal of Otolaryngology - Head & Neck... Sep 2022Lateral canthal webbing is a known complication of blepharoplasty, which occurs when the lateral aspect of the upper blepharoplasty incision is taken below the equator...
BACKGROUND
Lateral canthal webbing is a known complication of blepharoplasty, which occurs when the lateral aspect of the upper blepharoplasty incision is taken below the equator of the lateral canthus. Removing excessive eyelid skin laterally can also result in a lateral canthal web. Currently, there is no standard approach for addressing this complication.
METHODS
Retrospective review of single surgeon practice between 2011 and 2019. All patients underwent revision surgery using the proposed single Z-plasty technique.
RESULTS
Twenty-three patients referred for lateral canthal web were included in the study. All patients had previous upper lid blepharoplasty, with the initial procedure occurring 8-63 months prior to the referral for revision. The majority of the blepharoplasties occurred in Ontario (n = 19), but some patients also underwent surgery in Alberta (n = 1), British Columbia (n = 1), and United States (n = 1). The initial surgeries were performed by a variety of specialities including plastic surgery (n = 16), otolaryngology (n = 4), ophthalmology (n = 2), and family medicine (n = 1). Following revision surgery using the single Z-plasty technique, all patients reported a subjective increase in functional and aesthetic satisfaction. No further revision surgery was required for any of these patients.
CONCLUSION
The single Z-plasty technique is simple, robust, and could be easily incorporated into any cosmetic practice to address this complication of blepharoplasty.
Topics: Blepharoplasty; Eyelids; Humans; Lacrimal Apparatus; Plastic Surgery Procedures; Reoperation
PubMed: 36114564
DOI: 10.1186/s40463-022-00585-7 -
Taiwanese Journal of Obstetrics &... Aug 2018We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features.
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.
OBJECTIVE
We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features.
CASE REPORT
A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993-14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14, TYMS, SMCHD1, TGIF1, LAMA1, TWSG1, GNAL and PTPN2. Polymorphic DNA marker analysis revealed a maternal origin of the deletion.
CONCLUSION
Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes.
Topics: Adolescent; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Comparative Genomic Hybridization; Craniofacial Abnormalities; DNA; Female; Genetic Markers; Genotype; Humans; Intellectual Disability; Karyotype; Phenotype; Polymorphism, Genetic; Psychomotor Disorders; Turner Syndrome
PubMed: 30122583
DOI: 10.1016/j.tjog.2018.06.019 -
European Journal of Pediatrics Apr 2015Cushing syndrome (CS) in children is rare. Delayed diagnosis and treatment of CS may be associated with increased morbidity and, unfortunately, mortality. We performed a...
UNLABELLED
Cushing syndrome (CS) in children is rare. Delayed diagnosis and treatment of CS may be associated with increased morbidity and, unfortunately, mortality. We performed a retrospective review of all patients with CS under the age of 18 years referred to the National Institutes of Health (NIH) from 1998 to 2013 in order to describe deceased patients among cases of pediatric CS referred to the National Institutes of Health (NIH). The deaths of four children (three females and one male), aged 7.5-15.5 years (mean age 11.2 years) with length of disease 2-4 years, were recorded among 160 (2.5 %) children seen at or referred to the NIH over the last 15 years. All died at different institutions, prior to coming to the NIH (two) or after leaving NIH (two). Presenting symptoms included increasing weight and decreasing height gain, facial plethora, dorsocervical fat pad (webbed neck), striae, headache, vision disturbances, and depression and other mood or behavior changes; there were no differences between how these patients presented and the others in our cohort. The causes of CS in the deceased patients were also not different, in fact, they spanned the entire spectrum of CS: pituitary disease (one), ectopic corticotropin production (one), and primary adrenal hyperplasia (one). In one patient, the cause of CS could not be verified. Three died of sepsis and one due to residual disease and complications of the primary tumor.
CONCLUSIONS
Despite the advances in early diagnosis and treatment of pediatric CS, a 2.5 % mortality rate was identified in a large cohort of patients with this condition referred to an experienced, tertiary care referral center (although these deaths occurred elsewhere). Pediatricians need to recognize the possibility of death, primarily due to sepsis, in a patient with pediatric CS and treat accordingly.
Topics: Adolescent; Child; Child, Preschool; Cushing Syndrome; Female; Humans; Male; Retrospective Studies; United States
PubMed: 25241829
DOI: 10.1007/s00431-014-2427-y -
European Journal of Human Genetics :... Aug 2014Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A...
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS.
Topics: Adolescent; Adult; Amino Acid Substitution; Body Weights and Measures; Child; Child, Preschool; Craniofacial Abnormalities; Cross-Sectional Studies; Ephrin-B1; Facies; Female; Genetic Association Studies; Humans; Infant; Male; Mutation; Phenotype; Skull; Young Adult
PubMed: 24281372
DOI: 10.1038/ejhg.2013.273 -
Frontiers in Endocrinology 202118q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone... (Review)
Review
BACKGROUND
18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited.
METHODS
Here, we report one case of 18q- syndrome successfully treated with long-term rhGH supplement. Previously reported cases in the literature are also reviewed to investigate the karyotype-phenotype relationship and their therapeutic response to rhGH.
RESULTS
A 7.9-year-old girl was referred for evaluation for short stature. Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated subclinical hypothyroidism. The peak value of growth hormone was 10.26 ng/ml in the levodopa provocation test. Insulin-like growth factor 1 (IGF-1) was 126 ng/ml (57-316 ng/ml). Other laboratory investigations, including complete blood cell count, liver and kidney function, gonadal function, serum adrenocorticotropin levels, and serum cortisol levels, were all within normal ranges. Karyotype analysis showed 46, XX, del (18) (q21). L-Thyroxine replacement and rhGH treatment were initiated and maintained in the following 7 years. At the age of 14.8, her height has reached 159.5 cm with a height SDS increase of 2.82 SDS (from -3.02 SDS to -0.20 SDS). No significant side effects were found during the treatment. The literature review indicated the average rhGH treatment duration of 16 patients was 5.9 ± 3.3 years, and the average height SDS significantly increased from -3.12 ± 0.94 SDS to -1.38 ± 1.29 SDS after the rhGH treatment (p < 0.0001).
CONCLUSION
The main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. The literature review suggested a significant height benefit for short stature with 18q- syndrome from long-term rhGH treatment.
Topics: Child; China; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Female; Growth Disorders; Human Growth Hormone; Humans; Recombinant Proteins; Time Factors; Treatment Outcome
PubMed: 34956087
DOI: 10.3389/fendo.2021.776835 -
International Journal of Environmental... Aug 2023The objective of this study was to investigate to which extent anatomic features of the nasal and pharyngeal region contribute to the severity of obstructive sleep apnea...
The objective of this study was to investigate to which extent anatomic features of the nasal and pharyngeal region contribute to the severity of obstructive sleep apnea (OSA) and positive airway pressure (PAP) therapy response. Therefore, 93 patients (mean age 57.5 ± 13.0 years, mean body mass index 32.2 ± 5.80 kg/m, 75 males, 18 females) diagnosed with OSA who subsequently started PAP therapy were randomly selected from the databank of a sleep laboratory of a tertiary university medical center. Patients were subdivided based on nasal anatomy (septal deviation, turbinate hyperplasia, their combination, or none of the above), pharyngeal anatomy (webbing, tonsillar hyperplasia, their combination, or none of the above), and (as a separate group) tongue base anatomy (no tongue base hyperplasia or tongue base hyperplasia). Then, polysomnographic data (e.g., arousal index, ARI; respiratory disturbance index, RDI; apnea index, AI; hypopnea index, HI; and oxygen desaturation index, ODI) of diagnostic polysomnography (PSG) and PAP therapy control PSG were collected, grouped, and evaluated. Septal deviation, turbinate hyperplasia, or their combination did not significantly affect the assessed PSG parameters or the response to PAP therapy compared with patients without nasal obstruction ( > 0.05 for all parameters). Accordingly, most PSG parameters and the response to PAP therapy were not significantly affected by webbing, tonsil hyperplasia, or their combination compared with patients without pharyngeal obstruction ( > 0.05 for RDI, AI, HI, and ODI, respectively). However, in the pharyngeal anatomy group, ARI was significantly higher in patients with tonsil hyperplasia ( = 0.018). Further, patients with tongue base hyperplasia showed a significantly higher HI in the diagnostic PSG ( = 0.025) compared with patients with normal tongue base anatomy, but tongue base anatomy did not significantly affect the response to PAP therapy ( > 0.05 for all parameters). The influence of anatomic features of the nasal and pharyngeal region on PAP therapy response appears to be small, and generalizability of these results requires further studies.
Topics: Female; Male; Humans; Adult; Middle Aged; Aged; Hyperplasia; Pharynx; Turbinates; Academic Medical Centers; Arousal
PubMed: 37623166
DOI: 10.3390/ijerph20166580 -
BMC Nephrology Feb 2022Nutcracker syndrome (NCS) is characterized by compression of the left renal vein (LRV) between the aorta and the superior mesenteric artery. While rare, NCS was reported...
BACKGROUND
Nutcracker syndrome (NCS) is characterized by compression of the left renal vein (LRV) between the aorta and the superior mesenteric artery. While rare, NCS was reported to be accompanied by double inferior vena cava (IVC). We herein report a case of Noonan syndrome (NS) with double IVC who presented with macrohematuria and proteinuria.
CASE PRESENTATION
The patient was a 23-year-old man, who had been diagnosed with NS due to RIT1 mutation, after showing foamy macrohematuria 3 weeks previously. A physical examination revealed low-set ears and a webbed neck. A urinalysis showed hematuria and proteinuria, and urinary sediments showed more than 100 isomorphic red blood cells per high-power field. His proteinuria and albuminuria concentrations were 7.1 and 4.5 g/g⋅Cr, respectively. Three-dimensional contrast-enhanced computed tomography (CT) showed double IVC and narrowing of the LRV after interflow of the left IVC. The aortomesenteric angle on a sagittal reconstruction of the CT image was 14.7°. Cystoscopy revealed a flow of macrohematuria from the left ureteral opening. On Doppler ultrasonography, there was scant evidence to raise the suspicion of the nutcracker phenomenon. Since severe albuminuria continued, a left kidney biopsy was performed. Light microscopy showed red blood cells in Bowman's space and the tubular lumen. Electron microscopy revealed disruption of the glomerular basement membrane (GBM). Vulnerability of the GBM was suspected and a genetic analysis revealed a heterozygous mutation at c.4793 T > G (p.L1598R) in the COL4A3 gene. Screening for coagulation disorders revealed the factor VIII and von Willebrand factor (vWF) values were low, at 47.6 and 23%, respectively. A multimer analysis of vWF showed a normal multimer pattern and he was diagnosed with von Willebrand disease type 1. As the bleeding tendency was mild, replacement of factor VIII was not performed. His macrohematuria and proteinuria improved gradually without treatment, and his urinalysis results have been normal for more than 6 months.
CONCLUSIONS
The present case showed macrohematuria and proteinuria due to NCS in NS with double IVC and von Willebrand disease type 1. The macrohematuria and proteinuria originated from glomerular hemorrhage because of vulnerability of the GBM due to COL4A3 mutation.
Topics: Autoantigens; Collagen Type IV; Glomerular Basement Membrane; Hematuria; Humans; Male; Mutation; Noonan Syndrome; Proteinuria; Renal Nutcracker Syndrome; Vena Cava, Inferior; Young Adult; von Willebrand Disease, Type 1
PubMed: 35151252
DOI: 10.1186/s12882-022-02671-4 -
Forensic Science, Medicine, and... Mar 2022An 89-year-old man involved in a vehicle crash was found at autopsy to have a linear seat belt mark on the right side of his neck associated with extensive injuries of...
An 89-year-old man involved in a vehicle crash was found at autopsy to have a linear seat belt mark on the right side of his neck associated with extensive injuries of the right paraspinal muscles with fracture-dislocation and separation of cervical vertebrae 5 and 6. There was also fracture of the right facet joint between cervical vertebrae 5 and 6 and laceration of the right vertebral artery. Death was due to a cervical seat belt injury with spinal fracture and laceration of the right vertebral artery. The presence of extensive injuries to the right paraspinal muscles and cervical vertebra 5-6 fact joint beneath the seat belt mark would be in keeping with trauma due to the belt webbing, rather than mere hyperextension/flexion of the cervical spine. This report demonstrates a rare form of seat belt injury, transection of the vertebral artery, and suggests that the finding of seat belt markings on the lateral aspect of the neck should prompt examination for this type of lethal vascular injury at autopsy.
Topics: Accidents, Traffic; Aged, 80 and over; Humans; Lacerations; Male; Seat Belts; Spinal Fractures; Vertebral Artery
PubMed: 34655043
DOI: 10.1007/s12024-021-00429-2 -
Frontiers in Endocrinology 2018Cardiovascular defects occur in 50% of patients with Turner syndrome (TS). The aim of the study was to estimate the usefulness of cardiac magnetic resonance imaging...
Cardiovascular defects occur in 50% of patients with Turner syndrome (TS). The aim of the study was to estimate the usefulness of cardiac magnetic resonance imaging (CMR) and magnetic resonance angiography (angio-MR) as diagnostics in children and adolescents with TS. Forty-one females with TS, aged 13.9 ± 2.2 years, were studied. CMR was performed in 39 patients and angio-MR in 36. Echocardiography was performed in all patients. The most frequent anomalies diagnosed on CMR and angio-MR were as follows: elongation of the ascending aorta (AA) and aortic arch, present in 16 patients (45.7%), a bicuspid aortic valve (BAV), present in 16 patients (41.0%), and partial anomalous pulmonary venous return (PAPVR), present in six patients (17.1%). Aortic dilatation (-score > 2) was mostly seen at the sinotubular junction (STJ) (15 patients; 42.8%), the AA (15 patients; 42.8%), the thoracoabdominal aorta at the level of a diaphragm (15 patients; 42.8%), and the transverse segment (14 patients; 40.0%). An aortic size index (ASI) above 2.0 cm/m was present in six patients (17.1%) and above 2.5 cm/m in three patients (8.6%). The left ventricular end-diastolic volume (EDV), end-systolic volume (ESV), and stroke volume (SV) were diminished (-score < -2) in 10 (25.6%), 9 (23.1%), and 8 patients (20.5%), respectively. A webbed neck was correlated with the presence of vascular anomalies ( = 0.006). The age and body mass index (BMI) were correlated with the diameter of the aorta. Patients with BAV had a greater aortic diameter at the ascending aorta (AA) segment ( = 0.026) than other patients. ASI was correlated with aortic diameter and descending aortic diameter (AD/DD) ratio ( = 0.002; = 0.49). There was a significant correlation between the right ventricular ( = 0.002, = 0.46) and aortic diameters at the STJ segment ( = 0.0047, = 0.48), as measured by echocardiography and CMR. Magnetic resonance can identify cardiovascular anomalies, dilatation of the aorta, pericardial fluid, and functional impairment of the ventricles not detected by echocardiography. BMI, age, BAV, and elongation of the AA influence aortic dilatation. The ASI and AD/DD ratio are important markers of aortic dilatation. The performed diagnostics did not indicate a negative influence of GH treatment on the cardiovascular system.
PubMed: 30459711
DOI: 10.3389/fendo.2018.00609