-
Indian Journal of Otolaryngology and... Jun 2023Turner syndrome is the most common chromosomal anomaly in females. The typical features include short stature, amenorrhoea, short webbed neck, shielded chest and many...
Turner syndrome is the most common chromosomal anomaly in females. The typical features include short stature, amenorrhoea, short webbed neck, shielded chest and many comorbidities like osteoporosis, cardiac anomalies, diabetes and hypothyroidism. Primary hyperparathyroidism caused by parathyroid adenoma is rarely reported in patients of turner syndrome. The exact cause is not known at present. We report a case of a 21 years old patient of Turner syndrome who had symptoms of renal stones and hypercalcemia. USG neck and sestamibi scans revealed left inferior parathyroid adenoma. Surgical excision of the involved gland was done which led to normalization of S. calcium and PTH levels. Although hyperparathyroidism is extremely rare in patients of Turner syndrome, any symptoms of renal stones, pathological fractures and hypercalcemia should raise the suspicion of parathyroid adenoma. Surgical management should be planned as early as possible.
PubMed: 37274961
DOI: 10.1007/s12070-022-03322-8 -
Clinical Case Reports Jul 2023Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies,...
Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
PubMed: 37448946
DOI: 10.1002/ccr3.7678 -
Cureus Oct 2023Turner syndrome (TS) is a genetic anomaly that is characterized by the absence of an X chromosome, either completely or partially. Primary amenorrhea, short stature,...
Turner syndrome (TS) is a genetic anomaly that is characterized by the absence of an X chromosome, either completely or partially. Primary amenorrhea, short stature, webbed neck, cubitus valgus, and a little intellectual disability are some of the characteristics. Infertility is also one of the most common clinical symptoms of TS-affected females. With the advent of assisted reproductive technology (ART), chances of childbearing possibilities for TS females have risen. Infertility issues in females with TS are challenging, but they can be managed with proper counseling and ART by artificial implantation, oocyte donation, and others. This case report aims to present the case of a 27-year-old female who had not attained her menarche and wanted to conceive. She was diagnosed with TS on the basis of clinical and laboratory investigations. The patient was, thereafter, treated for infertility by oocyte donation and conceived successfully.
PubMed: 38022282
DOI: 10.7759/cureus.47172 -
American Journal of Medical Genetics.... Jun 2020KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused...
KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused either by heterozygous variant in ANKRD11 gene or 16q24.3 microdeletions that involve the ANKRD11 gene. Here, we report on two unrelated male patients who presented with ID, short stature, webbing of neck, and cryptorchidism. Noonan syndrome was suspected first but the presence of macrodontia in both patients pointed to KBG syndrome which was confirmed thereafter by the identification of a novel pathogenic variant in ANKRD11 gene, c.5488G>T (p.E1830*). Macrodontia was noticed in all the deciduous anterior teeth in Patient 1. This observation was reported previously in few patients, but it seems to be a common feature that could be misdiagnosed as premature eruption of teeth. Therefore, our results confirm that maxillary permanent central incisors may not be the only teeth affected in KBG but also all the deciduous teeth. Interestingly, desquamative gingivitis was additionally noted in Patient 1, which has not been reported previously, however; it could be a coincidental finding. To the best of our knowledge, this is the first report from Egypt.
Topics: Abnormalities, Multiple; Adolescent; Bone Diseases, Developmental; Child, Preschool; Chromosome Deletion; Comparative Genomic Hybridization; Cryptorchidism; Dwarfism; Egypt; Facies; Heterozygote; Humans; Intellectual Disability; Male; Phenotype; Repressor Proteins; Tooth Abnormalities
PubMed: 32222090
DOI: 10.1002/ajmg.a.61552 -
Facial Plastic Surgery & Aesthetic... 2024Present an excellent outcome for a rare pterygium colli reconstruction. Establish techniques that have yielded a successful aesthetic and functional outcome for a...
Present an excellent outcome for a rare pterygium colli reconstruction. Establish techniques that have yielded a successful aesthetic and functional outcome for a patient with pterygium colli in a procedure that lacks consensus. Surgical pearls-description of considerations for a successful reconstruction. An academic practice. Pediatric patient with Turner's syndrome who underwent neck and auricular reconstruction.
Topics: Humans; Child; Turner Syndrome; Pterygium; Neck; Face; Esthetics
PubMed: 38237133
DOI: 10.1089/fpsam.2023.0299 -
Traffic Injury Prevention 2023In rear impacts, the seat and seatbelt are intended to provide occupant restraint and maintain the occupant on the seat with favorable kinematics and low biomechanical...
OBJECTIVE
In rear impacts, the seat and seatbelt are intended to provide occupant restraint and maintain the occupant on the seat with favorable kinematics and low biomechanical responses. This study analyzes the lack of restraint provided by lap-shoulder belts in rear impacts with and without pretensioning and offers thoughts on ways to provide early restraint by seatbelts.
METHODS
Rear sled tests were conducted at 40.2 km/h (25 mph) delta V with a lap-shoulder belted, instrumented 50th Hybrid III. The dummy instrumentation included head, chest and pelvis triaxial acceleration and upper and lower neck triaxial loads and moments. Lap and shoulder belt loads were measured. High-speed video recorded different views of the occupant kinematics. In the first series, two sled tests were conducted with a Ford F-150 driver seat. One test was with the standard lap-shoulder belts only and a second with buckle pretensioner activation. In the second series, three matched tests were conducted with a Ford Escape driver seat. One test was with the lap-shoulder belts only, a second with retractor and anchor pretensioning and a third with only retractor pretensioning. The analysis included occupant kinematics, lap-belt movement and estimation of the load on the occupant's torso. The load was the sum of force on the upper and lower torso. The upper torso mass was 30.8 kg (67.8 lb) based on GEBOD data for the 50th Hybrid III. It was multiplied by the resultant chest acceleration to calculate the upper torso force. The lower-torso mass was 30.9 kg (68.0 lb). It was multiplied by the resultant pelvic acceleration to calculate the lower torso force. The total load on the seatback was the sum of the upper and lower torso force. The change in angle (θ) of the lap belt was determined by video analysis. The angle θ was from the horizontal up to a line through the lap-belt webbing. Ways to provide early lap-belt restraint were considered.
RESULTS
The rear sled testing at 40.2 km/h (25 mph) showed that the seatbelt provided essentially no restraint of the rearward movement of the occupant. The seat provided essentially all of the rearward restraint with and without pretensioning. There was minimal lap belt load in the series with the dual recliner Escape seat, except for a spike caused by pretensioning. There was more seat deformation in the tests with the single-side recliner F-150 seat. There were higher belt loads. The lap belt limited the lifting of the hips and thighs with essentially no rearward restraint of the occupant. Tension in the lap belt did not relate to restraint of rearward movement of the occupant. Seatbelts provided forward restraint of the occupant during rebound with the belts providing noticeable deceleration of the chest and pelvis. Concepts were considered to provide early lap-belt restraint. One involved a rear pretensioner that dynamically moves the lap-belt anchor forward and upward while tightening the belts in a rear impact. This provides a lap-belt angle greater than θ = 90 deg before occupant movement. With this geometry, the lap belt restrains rearward movement of the occupant and pulls the hip down early in a rear impact.
CONCLUSION
Seatbelts and pretensioners were designed for occupant restraint in frontal crashes, so it is not a surprise they do not provide much restraint of an occupant in rear impacts up to 40.2 km/h (25 mph). The lack of early lap-belt restraint is due to the unfavorable belt angle from the anchors over the hip. A concept is discussed that dynamically moves the anchors in rear impacts to provide early belt restraint.
Topics: Humans; Accidents, Traffic; Seat Belts; Thorax; Neck; Movement; Biomechanical Phenomena; Equipment Design; Acceleration
PubMed: 36135987
DOI: 10.1080/15389588.2022.2121143 -
Journal of Cardiovascular Translational... Dec 2023Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase alpha-protein kinase 3...
Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase alpha-protein kinase 3 (ALPK3) plays an essential role in sarcomere organization and cardiomyocyte differentiation. ALPK3 coding mutations are causative of recessively inherited pediatric-onset DCM and HCM with variable expression of facial dysmorphism and skeletal abnormalities and implicated in dominantly inherited adult-onset cardiomyopathy. We now report two variants in ALPK3-a coding variant and a novel intronic variant affecting splicing. We demonstrate that compound heterozygosity for both variants is highly suggestive to be causative of infantile-onset HCM with webbed neck, and heterozygosity for the coding variant presents with adult-onset HCM. Our data validate partial penetrance of heterozygous loss-of-function ALPK3 mutations in late-onset hypertrophic cardiomyopathy and expand the genotypic spectrum of autosomal recessive ALPK3-related cardiac disease with Noonan-like features.
Topics: Adult; Child; Humans; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic; Muscle Proteins; Mutation; Protein Kinases
PubMed: 37973666
DOI: 10.1007/s12265-023-10461-y -
Heliyon Jan 2024Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without...
Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature), caused by alterations in the gene, was previously considered as a subtype of brachyolmia. The present study investigated three unrelated consanguineous families (A, B, C) with Brachyolmia and DASS from Egypt and Pakistan. In our Egyptian patients, we also observed hearing impairment. Exome sequencing was performed to determine the genetic causes of the diverse clinical conditions in the patients. Exome sequencing identified a novel homozygous splice acceptor site variant (:c.3629-1G > T; p. ?) responsible for DASS phenotypes and a known homozygous missense variant (: c.590T > C; p.Ile197Thr) causing hearing impairment in the Egyptian patients. In addition, two previously reported homozygous frameshift variants (:c.132delG; p.Pro45Argfs*25) and (:c.2216delG; p.Gly739Alafs*7) were identified in Pakistani patients. This study emphasizes the vital role of in the axial skeleton and tooth morphogenesis and expands the mutational spectrum of . We are reporting variants in seven patients of three families, majorly causing brachyolmia with dental and cardiac anomalies. Skeletal assessment documented short webbed neck, broad chest, evidences of mild long bones involvement, short distal phalanges, pes planus and osteopenic bone texture as additional associated findings expanding the clinical phenotype of DASS. The current study reveals that the hearing impairment phenotype in Egyptian patients of family A has a separate transmission mechanism independent of .
PubMed: 38192829
DOI: 10.1016/j.heliyon.2023.e23688 -
Journal of Medical Case Reports Dec 202149XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000-100,000 male births. Worldwide, around 100 cases have been reported. In...
BACKGROUND
49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000-100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka.
CASE PRESENTATION
A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome.
CONCLUSION
49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.
Topics: Child; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; Infant; Infant, Newborn; Karyotyping; Male; Pregnancy; Testis; Testosterone
PubMed: 34965889
DOI: 10.1186/s13256-021-03188-4 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Aug 2023To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty. (Review)
Review
OBJECTIVE
To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty.
METHODS
A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People's Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiple ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized.
RESULTS
The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46,X,i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (< P3), with 6 ~ 8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms.
CONCLUSION
The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.
Topics: Humans; Female; Adolescent; Puberty; Turner Syndrome; Chromosomes, Human, X; Karyotyping
PubMed: 37532505
DOI: 10.3760/cma.j.cn511374-20220721-00484