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short stature

Papers (5)

Rare Short Stature Disorders in Childhood: Future Implications for Treatment and Gene Therapy Options

Stefan Bittmann, Elisabeth Luchter & Elena Moschüring-Alieva · Asian Journal of Pediatric Research · 2026

Rare childhood short stature disorders such as Achondroplasia, Hypochondroplasia, ACAN syndrome, and Noonan Syndrome are primarily caused by specific genetic mutations that disrupt normal bone growth and development. Advances in molecular diagnostics have improved early detection...

Open access Research Article 10.9734/ajpr/2026/v16i4539

Congestive Cardiac Failure in a Case of Fanconi Anaemia: Usual Presentation in a Rare Disease

Sanket Bhadra, Archita Jain, Jitendra Joshi Jr. & Vyas K. Rathaur · International Journal of Research and Reports in Hematology · 2023

The present study highlights an usual case of congestive cardiac failure. Cardiovascular, gastrointestinal or renal anomalies can also occur. FA “facies” microcephaly, small eyes, epicanthal folds, abnormal ears. A 11 year old male presented in emergency with complain of generali...

Open access Research Article

A Case of Familial Male-Limited Precocious Puberty with Mutation of (LHCGR) Gene, Peru Experience

Oswaldo Nuñez- Almache, Miguel Angel De los Santos-La Torre, Carlos Manuel Del Águila-Villar, Luis Rómulo Lu-de Lama, Eliana Manuela Chávez-Tejada, Oscar Antonio Espinoza-Robles, Paola Marianella Pinto-Ibárcena & Martha Rosario Calagua-Quispe · Asian Journal of Research and Reports in Endocrinology · 2022

Aims: To describe a case of familial male-limited precocious puberty (FMPP) that has been responding well to therapy with non-steroidal antiandrogen (bicalutamide), third-generation non-steroidal aromatase inhibitors letrozole - anastrozole and triptorelin. Presentation of Case:...

Open access Research Article

Clinical Pattern of Acquired Thyroid Disorders in Childhood and Adolescents Attending Endocrine Unit, Tripoli Children Hospital

Faten BenRajab, Salha Gliwan & Gehan Bensreiti · Asian Journal of Medicine and Health · 2018

Background and Aims: Thyroid disorders are one of the endocrine disorders commonly encountered in childhood and adolescence and they manifest with alternations in thyroid hormone secretions, goitre or both. Normal thyroid gland function is critical for early neurocognitive develo...

Open access Research Article 10.9734/AJMAH/2018/43515

Retinoschisis in Congenital Hypopituitarism with Short Stature: A New Clinic Entity?

Sami Toyran, Sinan Bilgin & Fahrettin Akay · Journal of Advances in Medicine and Medical Research · 2016

Herein we report a short stature man with unilateral retinoschisis associated with optic disc anomaly. The patient presented to our clinic after 5 years of gradually decreased vision in his right eye. He had flat retinoschisis with large round-shape break of the inner retinal lay...

Open access Research Article 10.9734/BJMMR/2016/27379