Results 61 to 70 of about 228,760 (347)

Influences of Socioeconomic Status on Short Stature in Childhood [PDF]

Kosin Medical Journal, 2020
Objectives Short stature in childhood is defined to the cases in which the stature is below 3 percentiles of the standard value in accordance with that of those in the same age and gender group.
Sun Bok Suh, Hyung Su Kim
doaj   +1 more source

Short stature and SHOX gene haploinsufficiency [PDF]

, 2014
Introdução: A haploinsuficiência do gene SHOX (short stature homeobox gene) é uma das causas genéticas mais frequentes de baixa estatura isolada ou familiar, cuja gravidade clínica pode ser muito variável.
Borges, T., Cardoso, H., Costa, M., Ferreira, S., Magalhães, J., Oliveira, M., Ribeiro, L., Rocha, M.   +7 more
core  

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

A prospective study of etiology and clinical characteristics of children with short stature and response to treatment

Indian Journal of Health Sciences and Biomedical Research KLEU, 2022
OBJECTIVE: To study the etiological and clinical profile of children presenting with short stature and to assess growth velocity in children after 6 months of treatment.
Vijay Sheker Reddy Danda, Madhavi Verpula, Srinivas Rao Paidipally, Krishna Reddy Thaduri, Piyush Lodha, Sandeep Reddy Devireddy   +5 more
doaj   +1 more source

Measured parental height in Turner syndrome—a valuable but underused diagnostic tool [PDF]

, 2017
Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation.
Cizmecioglu, Filiz Mine, Donaldson, Malcolm, Gault, Emma Jane, Jones, Jeremy Huw, Mansour, Chourouk, Mason, Avril, Ouarezki, Yasmine   +6 more
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt

Therapeutic Advances in Endocrinology and Metabolism, 2017
Background: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature
Almontaser Hussein, Hekma Farghaly, Eman Askar, Kotb Metwalley, Khaled Saad, Asmaa Zahran, Hisham A. Othman   +6 more
doaj   +1 more source

Spatial and demographic disparities in short stature among school children aged 7–18 years: a nation-wide survey in China, 2014

BMJ Open, 2019
Objectives To identify spatial disparities and demographic characteristics of short stature, we analysed the prevalence of short stature collected in a nationwide health survey.Settings Data were obtained from the 2014 Chinese National Survey on Students
Jun Ma, Yanhui Dong, Zhaogeng Yang, Jia Ma, Tao Pei, Fen Dong, Sihui Guo, Qiuling Zhao, Shunan Wang, Zhixin Zhang   +9 more
doaj   +1 more source

Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment [PDF]

Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental na determinação da altura normal.
ARNHOLD, Ivo J. P., FUNARI, Mariana F. A., JORGE, Alexander A. L., MENDONÇA, Berenice B., NISHI, Mirian Y., SOUZA, Silvia C.   +5 more
core   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source