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Wiedemann‐Steiner syndrome (WDSTS) is an exceptionally rare autosomal dominant syndrome with considerable phenotypical variation. Clinical features include dysmorphic facial and skeletal features, growth deficiency, developmental delay, hypertrichosis cubiti and various dental features. We present a 7‐year‐old female with premature exfoliation of p...
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Citations
... [7,8,9]. Genetic variants in the KMT2A gene may be inherited autosomal dominant or appear de novo [6,9,10]. Patients are diagnosed usually in the neonatal, infant, or childhood period [2]. ...
Introduction:
Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.
Case report:
A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.
Conclusions:
Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.
... Wiedemann-Steiner syndrome (WDSTS) (OMIM #605130) is an autosomal dominant disorder caused by KMT2A gene mutations [1][2][3]. Wiedemann first reported WDSTS in 1989 [1]. WDSTS is extremely uncommon, affecting less than one in 1,000,000 persons [1]. ...
... Wiedemann-Steiner syndrome (WDSTS) (OMIM #605130) is an autosomal dominant disorder caused by KMT2A gene mutations [1][2][3]. Wiedemann first reported WDSTS in 1989 [1]. WDSTS is extremely uncommon, affecting less than one in 1,000,000 persons [1]. ...
... Wiedemann first reported WDSTS in 1989 [1]. WDSTS is extremely uncommon, affecting less than one in 1,000,000 persons [1]. WDSTS is thought to affect fewer than 1,000 individuals in the United States [4] and is distinguished by developmental delay or intellectual disability, failure to thrive, feeding difficulties, prenatal and postnatal growth restriction, hypertrichosis cubiti, short stature, vertebral anomalies, and distinct facial features [5]. ...
Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder that is caused by mutations in the KMT2A gene. This case reports a two-year-old male's diagnosis of WDSTS via a heterozygous variant of uncertain significance (VUS) (c.11735G>A(p.Cys3912Tyr). The patient's phenotypic presentation was remarkable for hypertrichosis, intellectual disability, intermittent aggressive behavior, developmental delay, failure to thrive, low weight, and the distinct facial features of long eyelashes, telecanthus, corrected strabismus, down-slanting palpebral fissures, and a wide nasal bridge with a broad tip. The importance of this case report stands on the principle of genetic evaluation in patients with ambiguous clinical presentations. In the future, molecular analysis of VUS with pathogenic clinical features can lead to targeted medical management and counseling.
... WSS syndrome affects males and females equally and is present among different populations with an overall estimated prevalence of <1 in 1,000,000 (21,22). The genetic basis of WSS is a mutation in the KMT2A (also known as MLL) gene on chromosome 11q23, thought to result in haploinsufficiency of the gene and lead to the characteristic findings of the syndrome (3, 23). ...
Context
Wiedemann-Steiner Syndrome (WSS) is a genetic disorder associated with an array of clinical phenotypes, including advanced bone age and short stature. 11-ketotestosterone (11KT) is a member of the group known as 11-oxygenated C19 androgens that are implicated in premature adrenarche.
Case description
Case 1: The patient is a 3 year and 11-month-old female diagnosed with WSS due to deletion of KMT2A detected on CGH microarray. At two years and 11 months, imaging revealed an advanced bone age. We obtained an 11KT level on this patient. 11KT in case 1 was elevated at 26.3 ng/dL, while the normal reference range is 7.3-10.9 ng/dL and the reference interval for premature adrenarche is 12.3-22.9 ng/dL, The repeat 11KT at follow up (chronological age 4 years and 6 months) was still elevated at 33.8 ng/dL Case 2: A second child with WSS and a 5kb intragenic KMT2A deletion was evaluated at 11 months of age; his 11KT was 4.5 ng/dL.
Conclusions
The elevated 11KT may indicate maturational changes related to increasing adrenal gland androgenic activation and may explain the advanced bone age seen in some patients with WSS. To our knowledge, this is the first case report that describes 11KT as a bioactive androgen potentially causing bone age advancement in WSS. Lack of elevation of 11KT in the second child who is an infant suggests increasing androgenic precursors and metabolites related to premature adrenarche may need to be longitudinally followed.
... At the age of 6 years and 9 months, the girl had only permanent teeth. Orthodontic treatment was planned, and the child remains under dental surveillance [44]. ...
Background:
Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorders that can lead to premature loss of deciduous teeth in children and to provide a comprehensive resource for clinical practice for both physicians and dentists.
Methods:
This study is a narrative review of original studies and case reports published in English and Polish between 1957 and 2021 that was conducted by searching electronic scientific resources: PubMed, Google Scholar, Web of Science, and Science Direct. The schema of the qualification process is represented by a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). In total, 196 articles were identified; after provisional assessment of the titles and abstracts by two reviewers, 46 were found to be relevant to the topic, including 1 review, 16 original papers, and 27 case reports regarding systemic disease resulting in premature tooth loss.
Results:
In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefèvre syndrome, mucocutaneous dyskeratosis, Coffin-Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypophosphatasia, acatalasia, Chediak-Higashi syndrome, cyclic neutropenia, erythromelalgia, Down syndrome, Hajdu-Cheney syndrome, short bowel syndrome, leukocyte adhesion deficiency type 1 (LAD-1), and Wiedemann-Steiner syndrome (WSS).
Background
Premature loss of primary teeth (PLPT) can be a rare presentation of systemic medical conditions. Premature loss of primary teeth may present a diagnostic dilemma to paediatric dentists.
Aims
To identify systemic conditions associated with PLPT and develop a clinical aid.
Design
OVID Medline, Embase and Web of Science were searched up to March 2023. Citation searching of review publications occurred. Exclusion occurred for conference abstracts, absence of PLPT and absence of English‐language full text.
Results
Seven hundred and ninety‐one publications were identified via databases and 476 by citation searching of review articles. Removal of 390 duplicates occurred. Following the exclusion of 466 records on abstract review, 411 publications were sought for retrieval, of which 142 met inclusion criteria. Thirty‐one systemic conditions were identified. For 19 conditions, only one publication was identified. The majority of publications, 91% ( n = 129), were case reports or series. Most publications, 44% ( n = 62), were related to hypophosphatasia, and 25% ( n = 35) were related to Papillon–Lefèvre. Diagnostic features were synthesised, and a clinical aid was produced by an iterative consensus approach.
Conclusions
A diverse range of systemic diseases are associated with PLPT. Evidence quality, however, is low, with most diseases having a low number of supporting cases. This clinical aid supports paediatric dentists in differential diagnosis and onward referral.
Background
Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disability and obvious facial dysmorphism.
Case presentation
Here, we report a 5-year-old girl with clinical features similar to WDSTS, including postnatal growth delay, retarded intellectual development, and ocular hypertelorism. Through whole-exome sequencing (WES), a frameshift variant of KMT2A was found in the patient but not in her parents’ genomic DNA. By bioinformatics analysis, the KMT2A variant was demonstrated to be the top candidate pathogenic variant for the clinical phenotype consistent with WDSTS. Moreover, a duplication of exon 1 in ADAMTS8 (belonging to the zinc metalloproteinase family) was found in the genomic DNA of this patient, which may be responsible for the characteristics that are different from those of WDSTS, including early teething, rapid tooth replacement, and dysplastic enamel.
Conclusions
From the above results, we propose that in our patient, the frameshift variant in KMT2A is the main reason for the WDSTS phenotype, and the unreported mutation in ADAMTS8 may be the candidate reason for other characteristics that are different from those of WDSTS. Therefore, this study not only provides a new KMT2A variant associated with WDSTS but is also a reminder that combined mutations may be present in a case with more characteristics than those seen in WDSTS.
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by a broad phenotypic spectrum, including facial dysmorphism, hypertrichosis, hypotonia, short stature, and developmental delay. Mutations in the lysine (K)-specific methyltransferase 2A (KMT2A) gene are known to cause WSS. A 2 year-old boy with a short stature visited our pediatric endocrinology clinic for a diagnostic examination. In addition to his short stature, he had other symptoms characteristic of WSS including dysmorphic features and developmental delay. Whole-exome sequencing was performed in order to diagnose any underlying genetic condition; the test detected the presence of the mutant variant of KMT2A:c.731T>G(p.Leu244*). Since the patient showed a decreased growth velocity after 18 months of age, a growth hormone provocation test was performed to check for growth hormone (GH) deficiency. The patient's peak GH level was found to be 6.96 ng/mL and recombinant human GH treatment was started. This case of WSS along with growth hormone deficiency (GHD) in a pediatric patient is the first report of its kind in Korea, to the best of our knowledge. WSS should be considered as a possibility in pediatric patients with short stature, especially in the presence of additional clinical symptoms, such as dysmorphic features and developmental delay.
The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by‐products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management. This article is protected by copyright. All rights reserved.
Case:
Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with many phenotypic characteristics, including multiple orthopaedic manifestations. Of these, symptomatic significant hip dysplasia has been variably noted. Nonetheless, few reports detail surgical treatment for these patients, including hip preservation for those with hip dysplasia.
Conclusion:
Periacetabular osteotomy allows for the correction of severe hip dysplasia in patients with WDSTS. With proper recognition and timely intervention, adequate care may be provided for these patients.
