Results 61 to 70 of about 3,414,711 (270)

The problem of a child with short stature in the paediatrician’s and family doctor’s office

Pediatria i Medycyna Rodzinna, 2022
Height and weight measurements are an important element of every child’s visit to the paediatrician’s or family doctor’s office. Short stature is defined as a height below the 3rd percentile for age and sex. It is important to identify children in the short stature group (3% of the population) whose short height is not due to familial factors and ...
Ewa Gramatyka-Drążek, Artur Mazur
openaire   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Tubular Bone Alterations in Familial Short Stature

, 2019
An anthropometric study was performed on 40 Caucasian chil­dren with familial short stature (FSS) and compared with 40 age-, race-, and sex-matched children with normal stature and 958 adolescent boys and girls with normal stature.
Cervantes, Cecilia, Lipshitz, Fima
core   +1 more source

Follow-up of children and adolescents with short stature: the importance of the growth rate

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Short stature is defined as a height of more than two standard deviations below the average for a given age and sex in a reference population.
Maria Wany Louzada Strufaldi, Edina Mariko Koga da Silva, Rosana Fiorini Puccini   +2 more
doaj   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Childhood Short Stature [PDF]

Al Ameen Journal of Medical Sciences, 2012
Childhood short stature comprises Varity of endocrinal, systemic, Skeletal & genetic disorders of pediatrics and is not just confined for endocrinal disorder only. A systemic approach often reduces the need for test which is often expensive &unnecessary.
J.Ray
doaj  

GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism [PDF]

, 2007
Objective: The polymorphic deletion of exon 3 of the GH receptor (d3-GHR) has recently been linked to the magnitude of growth response to recombinant human GH (rhGH) therapy in short children with or without GH deficiency.
Ranke, MB, Ester, W.A. (Wietske), Johnston, L.B., Tauber, M, Fryklund, L, Fauvel, J, Fauvel, J., Ranke, M.B., Johnston, LB, Hokken-Koelega, AC, Ester, WA (Wietske), Auriol, F., Nugent, T., Savage, M.O., Molinas, C. (Catherine), Molinas, C, Hokken - Koelega, Anita, Auriol, F, Ester, W, NESTEGG group, Savage, MO, Caliebe, J, Clark, AJ, Fryklund, L., Caliebe, J. (Janina), Nugent, T, Tauber, M., Clark, A.J.L., Hokken-Koelega, A.C.S. (Anita), Clark, AJL   +29 more
core   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Etiology of Short Stature in Northern India

Journal of the ASEAN Federation of Endocrine Societies, 2016
Objective. Short stature can be caused by a great variety of congenital and acquired conditions, some of which present with additional symptoms and signs.
Manish Gutch, Kumar Sukriti, Gupta Kumar Keshav, Mohd Razi Syed, Gupta Abhinav, Bhattacharjee Annesh, Ravi Mishra   +6 more
doaj