Results 51 to 60 of about 236,029 (259)
Familial idiopathic short stature and beyond: a case-report of a novel heterozygous NPR2 mutation.
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-BiologicheBackground: NPR2 gene encodes for B-type natriuretic peptide receptor (NPR-B), a positive regulator of the growth plate. Recently, heterozygous NPR2 mutations were reported in 2–6% cases of idiopathic short stature (ISS) and 13.6% of familial ISS ...
Ylenia Giorgianni +5 more
doaj +1 more source
Italian Journal of Pediatrics, 2015 At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature.
Francesca Mancini +7 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa +4 more
wiley +1 more source
Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]
, 2017 Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc +6 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger +3 more
wiley +1 more source
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 +6 more
doaj +1 more source
Leri-Weill dyschondrosteosis: An under-recognised cause of short stature
South African Journal of Radiology, 2009 Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated.
E G Lemire, S Wiebe
doaj +1 more source
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
Heterozygous GHR gene mutation in a child with idiopathic short stature [PDF]
, 2017 Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits.
Bozzola, Elena +6 more
core
Short Adolescents Born Small for Gestational Age : Gonadal and thyroid function, bone mineral density, quality of life and adult height: The effects of growth hormone and additional postponement of puberty [PDF]
, 2012 From 1991, our research group and others have been investigating children with short stature who were born small for gestational age (SGA), both before and during treatment with biosynthetic growth hormone (GH).
Lem, A.J. (Annemieke)
core +6 more sources