Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

[Audiological phenotypes of KBG syndrome: a case report and literatures review].

ABSTRACT: KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 gene. The patient, who has a series of symptoms including hearing loss, short stature, macrodontia of upper central incisors and mental retardation, was diagnosed with KBG syndrome. Pure tone audiometry showed bilateral conductive hearing loss, the temporal bone CT suggested there were deformed ossicular chain in bilateral middle ears, and X-ray showed bone age was only five years old or so, what is the most important is that genetic testing prompted a de novo mutation of ANKRD11. The aim of this article was to briefly analyze the audiological phenotypic characteristics of KBG syndrome and hope to improve the clinical attention to this disease.

SUBMITTER: Su W

PROVIDER: S-EPMC10128557 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

[Audiological phenotypes of KBG syndrome: a case report and literatures review].

Su Wenwen W Xia Yuqi Y Xia Caifeng C Liu Yuhe Y

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 20221001 10

KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 gene. The patient, who has a series of symptoms including hearing loss, short stature, macrodontia of upper central incisors and mental retardation, was diagnosed with KBG syndrome. Pure tone audiometry showed bilateral conductive hearing loss, the temporal bone CT suggested there were deformed ossicular chain in bilateral middle ears, and X-ray showed bone age was only fi ...[more]

PMID: 36217662

Similar Datasets

[Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review].

Project description:Antlet-Bixler syndrome is a rare congenital multiple malformation. In this report, a child with clinical features of midface hypoplasia, craniosynostosis, and skeletal deformities was diagnosed with Antlet-Bixler syndrome after whole exome sequencing demonstrated compound heterozygous mutations in POR. The audiological findings of affected children with sensorineural, conductive, mixed hearing loss are complex and variable. In this paper, its clinical audiological features and genetic etiology were discussed in combination with relevant literatures.

| S-EPMC10320681 | biostudies-literature

[Myelodysplastic syndrome with chromosome 5q deletion and philadelphia chromosome: case report and literatures review].

Project description: Not available

| S-EPMC7767816 | biostudies-literature

Growth hormone therapy for children with KBG syndrome: A case report and review of literature.

Project description:BACKGROUND:The incidence of short stature in KBG syndrome is relatively high. Data on the therapeutic effects of growth hormone (GH) on children with KBG syndrome accompanied by short stature in the previous literature has not been summarized. CASE SUMMARY:Here we studied a girl with KBG syndrome and collected the data of children with KBG syndrome accompanied by short stature from previous studies before and after GH therapy. The girl was referred to our department because of short stature. Physical examination revealed mild dysmorphic features. The peak GH responses to arginine and clonidine were 6.22 and 5.40 ng/mL, respectively. The level of insulin-like growth factor 1 (IGF-1) was 42.0 ng/mL. Genetic analysis showed a c.2635 dupG (p.Glu879fs) mutation in the ANKRD11 gene. She received GH therapy. During the first year of GH therapy, her height increased by 0.92 standard deviation score (SDS). Her height increased from -1.95 SDS to -0.70 SDS after two years of GH therapy. There were ten children with KBG syndrome accompanied by short stature who received GH therapy in reported cases. Height SDS was improved in nine (9/10) of them. The mean height SDS in five children with KBG syndrome accompanied by short stature increased from -2.72 ± 0.44 to -1.95 ± 0.57 after the first year of GH therapy (P = 0.001). There were no adverse reactions reported after GH treatment. CONCLUSION:GH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy.

| S-EPMC7103963 | biostudies-literature

MACRODONTIA: A brief overview and a case report of KBG syndrome.

Project description:Macrodontia is a dental condition where a tooth or group of teeth are abnormally larger than average. Functional and aesthetic discrepancies may arise in affected individuals resulting in lowering the quality of life. It has been noted that macrodontia is associated with several genetic and endocrine abnormalities. Among which, KBG syndrome is a rare genetic disorder characterized by developmental and dental abnormalities. This case report provides a brief overview of the significance of macrodontia, along with presenting a case of KBG syndrome with atypical features in a South African, 16-year-old female. The dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in KBG syndrome facilitates accurate diagnosis and appropriate management of this condition. The authors highlight the importance for clinicians to be cognizant of the clinical implications of macrodontia.

| S-EPMC8026913 | biostudies-literature

Acute cardiac tamponade following thoracoscopic lobectomy: a case report and literatures review.

Project description:Thoracoscopic lobectomy is a common surgical procedure for the treatment of lung cancer. With the continuous development of surgical techniques and medical devices, complications after thoracoscopic lobectomy are less and less, and cardiac tamponade is even rarer. This case is a 62-year-old woman who underwent thoracoscopic left upper lobectomy for a left upper lobe nodule. The patient developed acute cardiac tamponade on postoperative day 2, and symptoms resolved after pericardiocentesis. However, 20 h later, the patient underwent emergency surgery for re-developed acute cardiac tamponade, which was found to be a coronary tear. A review of the literature suggested that cardiac tamponade is more common in left lung surgery than right lung surgery. Pericardiocentesis can resolve initial acute cardiac tamponade, but pericardiotomy may be urgently needed after recurrence.

| S-EPMC10563251 | biostudies-literature

Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.

Project description:RationaleKBG syndrome (KBGS, OMIM: 148050), a rare genetic disorder, is clinically characterized by megalodontia, short stature, skeletal abnormalities, and nervous system manifestations. In the study, we explore the clinical and genetic characteristics of one neonate suffering KBGS caused by ANKRD11 gene mutation.Patient concernsThe proband, a female, was born prematurely at 31 + 2 weeks. There were repeated infections and abdominal distension in the first month after birth, and the platelets could not rise to normal. Head ultrasound showed intracranial brain injury and intracranial hemorrhage.DiagnosesSequencing revealed that there was a heterozygous mutation in exon 9 of the ANKRD11 gene (NM_013275.5) for the child, c.1896_1897delTA (p.H632Qfs*30), which was a de novo mutation and has not been reported. Combining clinical features and genetic results, the proband was diagnosed as KBGS.Interventions and outcomesThe brain sonography on day 4 after birth showed brain injury and intracranial hemorrhage. Therefore, 140 mg of bovine lung surfactant was administered through endotracheal intubation in addition to ventilator-assisted ventilation. Antibiotic treatment was also given till the inflammatory indicators of the infant returned to normal levels. The following-up of 1-year-6-month showed that the language, motion and height of development is slight falling behind the children of the same age.LessonsThis is the first case of KBGS was diagnosed in the neonatal period, which provides a reference for the child to receive timely and correct treatment.

| S-EPMC10553122 | biostudies-literature

KBG syndrome.

Project description:Clinical descriptionKBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormalities. The condition was named KBG syndrome after the initials of the last names of three original families reported in 1975.EpidemiologyThe prevalence of KBG syndrome is not established. There are over 100 patients reported in the literature. It is likely that KBG syndrome is underreported due to incomplete recognition and very mild presentations of the disorder in some individuals. KBG syndrome is typically milder in females.EtiologyCausative variants in ANKRD11 have been identified in affected individuals. The vast majority of identified variants are loss of function, which include nonsense and frameshift variants and larger deletions at 16q24.3. Haploinsufficiency appears to be the mechanism of pathogenicity.Genetic counselingFamilial and de novo cases have been reported. Causative de novo variants occur approximately one third of the time. Transmission follows an autosomal dominant pattern. The syndrome displays inter- and intra-familial variability.

| S-EPMC5735576 | biostudies-literature

KBG syndrome.

Project description:KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7-8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

| S-EPMC1764006 | biostudies-literature

Treatment and molecular analysis of bullous pemphigoid with tofacitinib: a case report and review of current literature

Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.

2024-11-13 | GSE278926 | GEO

A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.

Project description:Here we report a case of a 16q24.3 microdeletion KBG syndrome (KBGS) in a fetus. The absence of a well-defined phenotype poses a challenge for genetic diagnosis. This report demonstrated that the high-risk chromosome 21 trisomy could be the first manifestation of KBGS, as observed in this case.

| S-EPMC9207229 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data