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Definition and prevalence of familial short stature [PDF]

Italian Journal of Pediatrics, 2021
Objective To verify the prevalence of novel definitions of familial short stature on a cross-sectional cohort of children referred for short stature when their height and that of both parents were measured.
Veronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, Fabio Sirchia, Egidio Barbi, Gianluca Tornese   +5 more
doaj   +10 more sources

Monogenic causes of familial short stature [PDF]

Frontiers in Endocrinology
Genetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered
Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Vit Neuman, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova   +6 more
doaj   +8 more sources

Genetic Heterogeneity Underlying Familial Short Stature [PDF]

Diagnostics
Background and Clinical Significance: Familial short stature is a common reason for referral in clinical genetics. While often attributed to a single genetic cause, genetic heterogeneity can complicate diagnosis and management.
Margot Comel, Mouna Barat-Houari, Fanny Alkar, Cyril Amouroux, Olivier Prodhomme, Nathalie Ruiz, Sophie Rondeau, Constance F. Wells, Yves-Marie Pers, David Geneviève, Marjolaine Willems   +10 more
doaj   +8 more sources

Genetic Architecture Associated With Familial Short Stature.

Journal of Clinical Endocrinology and Metabolism, 2020
Abstract Context Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation. Familial short stature (FSS; also called genetic short stature) is the most common type of short stature and is insufficiently known ...
Ai-Ru Hsieh, Yanfei Zhang, Ming Ta Michael Lee   +2 more
exaly   +6 more sources

Familial Short Stature—A Novel Phenotype of Growth Plate Collagenopathies [PDF]

Journal of Clinical Endocrinology and Metabolism, 2021
Abstract Context Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature.
ŠtĚpánka Prúhová, Jan Lebl, Lenka Petruželková   +2 more
exaly   +4 more sources

Ichthyosiform lesion at birth demystifying familial short stature

Indian Journal of Paediatric Dermatology, 2021
Conradi-Hünermann syndrome is a rare genetic condition characterized by skeletal malformations, skin abnormalities, cataracts and short stature. We report a term female infant presenting with a diffuse ichthyosiform erythroderma at birth.
Chanchal Kumar, Sindhu Sivanandan, Nishad Plakkal   +2 more
doaj   +2 more sources

SHOX Gene Screening in Familial Short-stature Females [PDF]

Journal of Medical Academics
Introduction: As idiopathic short stature (ISS) has been linked to mutations in the SHOX gene, research into SHOX gene mutations in idiopathic familial short stature (FSS) is crucial. Early intervention planning necessitates the timely evaluation of FSS.
Karishma Sharma, Prashant Kumar Verma, Shashi Ranjan Mani Yadav, Brijendra Singh, Manisha Naithani   +4 more
doaj   +2 more sources

A clinical case of a patient with idiopathic familial short stature

Медицинский вестник Юга России
Height is one of the important indicators of a person’s physical health and psychosocial living conditions. The factors determining the final growth of a person include the effects of growth hormone, as the main stimulator of linear growth, as well as ...
N. I. Volkova, I. Yu. Davidenko, E. V. Voronina, V. E. Shpakova   +3 more
doaj   +2 more sources

Short Stature in Children Visiting Endocrine Out Patient Department of Kanti Children’s Hospital, Nepal: A retrospective review

Journal of College of Medical Sciences-Nepal, 2021
Introduction: The causes of Short Stature in children are different in different countries. It can vary from endocrine to non-endocrine. This study was conducted to identify the causes of short stature in children who are brought in Endocrine Out Patient
Anupama Kumari Yadav, Subhana Thapa Karki   +1 more
doaj   +1 more source

SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report

Diagnostics, 2022
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis ...
Maria-Christina Ungureanu, Anamaria Hrisca, Lavinia Caba, Laura Teodoriu, Stefana Bilha, Cristina Preda, Letitia Leustean   +6 more
doaj   +1 more source