Results 31 to 40 of about 2,121 (149)

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN ‐Related Short Stature

Clinical Genetics, Volume 109, Issue 2, Page 374-379, February 2026.
This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman, Ayman Asaly, Hadas Ityel, Ben Pode‐Shakked, Dalit Modan‐Moses, Yael Levy‐Shraga   +5 more
wiley   +1 more source

A Comprehensive Review of Artificial Intelligence Methods in Bone Age Assessment

Healthcare Technology Letters, Volume 13, Issue 1, January/December 2026.
ABSTRACT Bone age reflects individual skeletal maturity and is an important factor in the follow‐up and monitoring of growth and development in children. Determination of bone age by paediatricians has remained one of the most typical indications that require the use of radiology, and the historical method by which radiologists determine bone age is ...
Mohsen Borjalizadeh, Farshid Babapour Mofrad, Midya Yousefzamani   +2 more
wiley   +1 more source

Pycnodysostosis Unveiled: Craniofacial and Dental Manifestations in Focus

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Pycnodysostosis refers to an uncommon autosomal recessive developmental anomaly, which results in decreased bone remodeling, manifesting itself in a variety of clinical and radiographic displays. We report two cases involving two sisters aged 12.5 and 8 years old from a consanguineous marriage.
Khaoula M′Rabt, Soufiane Kharraz, Hind Ramdi, Fatima Zaoui, Abdelali Halimi, Hannah Wesley   +5 more
wiley   +1 more source

Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss

Human Mutation, Volume 2026, Issue 1, 2026.
PNPLA6 is a conserved lysophospholipase essential for maintaining nervous system integrity. Biallelic mutations in PNPLA6 have been identified in individuals with a broad spectrum of disorders that can include ataxia, vision loss, and pituitary hormone deficiency.
Sebastian Vishnopolska, James Liu, Maria Andrea Camilletti, Julian Martinez Mayer, Lucia Iglesias Garcia, Michelle Brinkmeier, Elisa Vaiani, Sofia Hebe Vidal, Marta Ciaccio, María Isabel Di Palma, Alicia Belgorosky, Marcelo Marti, Robert B. Hufnagel, Sally A. Camper, Maria Ines Perez-Millan, Elfride De Baere   +15 more
wiley   +1 more source

TRMT10A‐Related Neurodevelopmental Disorder Without Metabolic Findings

Human Mutation, Volume 2026, Issue 1, 2026.
TRMT10A is a tRNA methyltransferase gene associated with a rare autosomal recessive disorder characterized by microcephaly, intellectual disability, epilepsy, short stature, and abnormalities in glucose metabolism. Although an increasing number of patients have been reported, the extent of phenotypic variability and genotype–phenotype correlations ...
Döndü Ülker Üstebay, İrem Aksu Şahin, Sefer Üstebay, Gül Ünsel Bolat, Hilmi Bolat, Miklos Sahin -Toth   +5 more
wiley   +1 more source

Enhancing the Evaluation of Central Precocious Puberty in Female Patients via Age‐Specific Models Incorporating Clinical Biomarkers

International Journal of Clinical Practice, Volume 2026, Issue 1, 2026.
Objective This investigation sought to develop and prospectively validate age‐specific diagnostic models based on routinely accessible clinical biomarkers. These models differentiate central precocious puberty (CPP) from peripheral precocious puberty (PPP) in girls, providing a pragmatic strategy to reduce superfluous gonadotropin‐releasing hormone ...
Shuyu Xie, Yingxuan Huang, Chao Meng, Qiongjin Wang, Guangzhong Zhou, Yu Jin, Yingmin Zhao, Weiwei Cao, Jialin Li, Yuehong Tao, Zhiwen Luo   +10 more
wiley   +1 more source

Congenital Hypothyroidism: Long‐Term Growth and Intellectual Outcomes With a Lower Initial Levothyroxine Dose

Clinical Endocrinology, Volume 103, Issue 6, Page 895-905, December 2025.
ABSTRACT Objectives This study aims to review the long‐term outcome of congenital hypothyroidism (CH) and whether patient‐ or treatment‐related factors impact the outcomes, especially focusing on the initial Levothyroxine dose. Methods This is a retrospective, cross‐sectional study of the children diagnosed with CH who received Levothyroxine at Ajou ...
Jun‐Hong Park, Jae Hyuk Oh, Min Hyung Cho, Young Suk Shim, Hae Sang Lee   +4 more
wiley   +1 more source

Skeletal age assessed by Greulich-Pyle: Intra-observer and inter-observer agreement among male pubertal tennis players. [PDF]

The assessment of biological maturation is a central topic in pediatric exercise sciences. Skeletal age (SA) reflects changes in each bone of the hand and wrist from initial ossification to the adult state.
Tavares, Oscar M., Luís P Ribeiro, Ribeiro, Luís P., Coelho-e-Silva, Manuel J., Jan M Konarski, Ribeiro, Luís Pedro, Gouveia, Élvio R., Martinho, Diogo V., Élvio R Gouveia, Isabel Fragoso, Jorge M Celis-Moreno, Oscar M Tavares, Cumming, Sean P., Robert M Malina, Tomas Oliveira, Oliveira, Tomás, Santos, João Gonçalves, Sean P Cumming, Myburgh, Gillian K., Malina, Robert M., Sherar, Lauren B., Gonçalves-Santos, João, Manuel J Coelho-E-Silva, Cayolla, Ricardo R., Gillian K Myburgh, Ricardo R Cayolla, Konarski, Jan M., Pedro Duarte-Mendes, Duarte-Mendes, Pedro, Celis-Moreno, Jorge M., Diogo V Martinho, Lauren B Sherar, João Gonçalves-Santos, Fragoso, Isabel, Tavares, Óscar, Silva, Manuel Coelho e   +35 more
core   +2 more sources

Phenotypic Spectrum and Diagnostic Challenges in Klippel‐Trenaunay Syndrome: A Case Series

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Klippel‐Trénaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of capillary malformations, venous varicosities, and soft tissue or bony hypertrophy. This case series highlights rare and atypical presentations of KTS, emphasizing the importance of a multidisciplinary diagnostic approach.
Marya Hameed, Tooba Ali, Md Ariful Haque
wiley   +1 more source

Comparison of classical methods for bone age determination with capitohamate planimetry on wrist X-RAY [PDF]

, 2021
Çalışmanın amacı, pediatrik dönemde tıbbi ve adli açıdan kemik yaşı tespitinin önemi nedeniyle pediatrik yaş grubunda kemik yaşı tayini için çekilen sol el bileği grafisinde kullanılan Greulich-Pyle,Tanner-Whitehouse 2 yöntemlerinin Capitohamatum ...
Yıldız, Hasan
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