Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2021 2
2022 2
2023 1
2024 3
2025 1
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, Vasileiou G, Reis A, Prince B, Hickey SE, Koboldt DC, Schneider MC, Porrmann J, Di Donato N, Leis T, Perry MS, Humberson J, Rotenberg J, Bakhtiari S, Magee H, Kheradmand S, Kruer MC, Swale A, Weber A, Landes C, Zuffardi O, Garavelli L, van Haeringen A, Ruivenkamp CAL, Pauly M, Au PYB, Dobyns WB, Aldinger KA. Erdogan EN, et al. Am J Med Genet A. 2025 Sep;197(9):e64093. doi: 10.1002/ajmg.a.64093. Epub 2025 May 3. Am J Med Genet A. 2025. PMID: 40317680 Free PMC article.
Dysmorphisms include digit anomalies: Symphalangism and hypoplasia of distal phalanges, exclusive to the HX domain variant group. ...
Dysmorphisms include digit anomalies: Symphalangism and hypoplasia of distal phalanges, exclusive to the HX domain variant group. ...
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
Maden Bedel F, Balasar Ö, Erol Aytekin S, Keleş S, Çaksen H. Maden Bedel F, et al. Eur J Med Genet. 2024 Apr;68:104910. doi: 10.1016/j.ejmg.2024.104910. Epub 2024 Jan 21. Eur J Med Genet. 2024. PMID: 38262577 Free article.
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported in the literature so far, eleven o …
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorph …
Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.
Berg AR, Pletcher BA, Edobor-Osula OF. Berg AR, et al. JBJS Case Connect. 2021 Oct 27;11(4). doi: 10.2106/JBJS.CC.20.00964. JBJS Case Connect. 2021. PMID: 34714811
CASE: Tarsal-carpal coalition syndrome (TCCS) is a disorder identified by fusion of the carpals, tarsals, and phalanges of the hands and feet. ...
CASE: Tarsal-carpal coalition syndrome (TCCS) is a disorder identified by fusion of the carpals, tarsals, and ph …
Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
Chooey J, Trexler C, Becker AM, Hogue JS. Chooey J, et al. Am J Med Genet A. 2022 Jan;188(1):269-271. doi: 10.1002/ajmg.a.62486. Epub 2021 Sep 2. Am J Med Genet A. 2022. PMID: 34472207
We present the case of a newborn with type C EA/TEF along with proximal symphalangism found to have a de novo NOG nonsense mutation. Patients with chromosome 17q deletions including the NOG gene have previously been reported to have EA/TEF but mutations in the gene have no …
We present the case of a newborn with type C EA/TEF along with proximal symphalangism found to have a de novo NOG nonsense mutation. …
Prolonged Union in Conservative Treatment of Symphalangeal Toe Fractures: Case Series.
Kyung MG, Yoon YS, Kim Y, Lee KM, Lee DY, Hwang IU. Kyung MG, et al. Clin Orthop Surg. 2024 Apr;16(2):322-325. doi: 10.4055/cios23174. Epub 2024 Feb 16. Clin Orthop Surg. 2024. PMID: 38562628 Free PMC article.
BACKGROUND: Toe symphalangism is characterized by a fusion of the interphalangeal joint between the middle and distal phalanges. ...
BACKGROUND: Toe symphalangism is characterized by a fusion of the interphalangeal joint between the middle and distal phalanges. ...
Genotype-phenotype correlation-driven precision management in hereditary conductive and mixed hearing loss.
Wang Q, Wu X, Dong G, Li X, Gu X, Lin R, Sun S, Sun D, Shen W, Han D, Dai P, Han W, Ning F, Wang G, Yuan Y. Wang Q, et al. Eur Arch Otorhinolaryngol. 2026 Jun;283(6):3707-3724. doi: 10.1007/s00405-026-10111-4. Epub 2026 Mar 15. Eur Arch Otorhinolaryngol. 2026. PMID: 41838146
RESULTS: Syndromic cases showed high genetic confirmation (96.6%), including Branchio-Oto syndromes (BOS), Treacher Collins syndromes (TCS), Van der Hoeve syndromes (VH), and NOG-related symphalangism syndromes (NOG-SSD). Temporal bone anomalies were common in BOS (87.5%), …
RESULTS: Syndromic cases showed high genetic confirmation (96.6%), including Branchio-Oto syndromes (BOS), Treacher Collins syndromes (TCS), …
Low-Intensity Pulsed Ultrasound for Symptomatic Pseudarthrosis After Toe Fracture with Symphalangism: A Report of 2 Cases.
Shima H, Togei K, Hirai Y, Tanaka K, Saito A, Yasuda T, Neo M. Shima H, et al. JBJS Case Connect. 2023 Aug 31;13(3). doi: 10.2106/JBJS.CC.23.00227. eCollection 2023 Jul 1. JBJS Case Connect. 2023. PMID: 37651574
We report 2 cases of patients who underwent low-intensity pulsed ultrasound (LIPUS) therapy for pseudarthrosis after fracture of the distal phalanx of the fifth toe with symphalangism. Both patients (female, 63 and 33-year-old, respectively) underwent conservative treatmen …
We report 2 cases of patients who underwent low-intensity pulsed ultrasound (LIPUS) therapy for pseudarthrosis after fracture of the distal …
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.
Yang L, Shannon P, Silver R, Roifman M, Yates C, Chitayat D. Yang L, et al. Prenat Diagn. 2024 May;44(5):653-656. doi: 10.1002/pd.6543. Epub 2024 Mar 19. Prenat Diagn. 2024. PMID: 38504427
(Leu456Profs*3) is a frameshift variant predicted to result in protein truncation reported to segregate with the disease in multiple affected individuals from a single large family with distal symphalangism of the fourth finger. Fetal autopsy following pregnancy terminatio …
(Leu456Profs*3) is a frameshift variant predicted to result in protein truncation reported to segregate with the disease in multiple affecte …