Results 61 to 70 of about 7,286 (173)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Prevalence of celiac disease in Egyptian pediatric patients with idiopathic short stature [PDF]

Bulletin of the National Nutrition Institute of the Arab Republic of Egypt
Open accessCorresponding author Nahla Ahmed Mohammed * Email: anahla69@yahoo.comMobile: +201001262166Received: 1 April 2026Accepted: 30 April 2026Published: 21 May 2026 Citation: Nahla A Mohammed*, Mariam Z M Daowd, Hanan F Mohammed, and Manal O Mohammed.
Nahla Mohammed, Mariam Daowd, Hanan Mohammed, Manal Mohammed   +3 more
doaj   +1 more source

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Journal of Pediatrics Review, 2022
Background: Short stature is a common problem encountered by endocrinologists. Short stature may be due to normal variations of growth or pathologic process.
Vahid Sheikhi, Shamim Bonyadi, Zahra Heidari   +2 more
doaj  

Comparative efficacy of mono- and combined therapy for idiopathic short stature with delayed puberty

Mìžnarodnij Endokrinologìčnij Žurnal, 2018
Background. Growth hormone therapy for idio­pathic short stature (ISS) is a subject of debate, because of the heterogeneous endocrine profile in these children.
G.N. Rakhimova, K.N. Gilyazetdinov
doaj   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Management of children with idiopathic short stature [PDF]

European Journal of Endocrinology, 2006
The Food and Drug Administration (FDA) approved the use of biosynthetic GH for the treatment of children with idiopathic short stature (ISS) in the US in 2003. Primarily, the decision was based on two studies: a randomized placebo-controlled study and a dose–response study, both demonstrating an increase in adult height over the predicted height at ...
openaire   +1 more source

Managing idiopathic short stature: role of somatropin (rDNA origin) for injection

Biologics: Targets & Therapy, 2010
J Paul Frindik1, Stephen F Kemp11University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, AR, USAAbstract: Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH)
J Paul Frindik, Stephen F Kemp
doaj  

The Etiological Spectrum OF Short Stature among Children Attending Endocrine Clinic at Tertiary Care Hospital [PDF]

Liaquat National Journal of Primary Care
Background: One of the most frequent reasons for referral to pediatric endocrinology units is short stature. Children’s short height has a complicated etiology that includes genetics, race, gender, nutrition, and several endocrine hormones.
Hira Urooj Iqbal, Mohsina Ibrahim, Kulsoom Shabbir, Zara Shaukat   +3 more
doaj   +1 more source

Monogenic causes of familial short stature

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   +1 more source

Ghrelin Plasma Levels in Patients with Idiopathic Short Stature

Hormone Research in Paediatrics, 2010
<i>Background:</i> Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short stature have been reported.
Iñíguez Vila, Germán, Román, Rossana, Youlton, Ronald, Cassorla Goluboff, Fernando, Mericq, Verónica   +4 more
openaire   +5 more sources