Search results for "SHORT STATURE"
showing 10 items of 46 documents
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
1997
AbstractCleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude th…
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical …
2014
Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The TUSC3 gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which mediates a key step of N-glycosylation. To date, only five families with NS-ARID and TUSC3 mutations or rearrangements have been reported in the literature. All patients had speech delay, moderate-to-severe ID, and moderate facial dysmorphism. Micr…
Girl With Partial Turner Syndrome and Absence Epilepsy
2007
This report describes a 16-year-old girl with short stature (-5 standard deviations), normal puberty, panic attacks, absence epilepsy, some stigmata of Turner syndrome, and a Madelung deformity. Routine chromosomal analysis revealed a female karyotype with one abnormal chromosome X, with the suspicion of additional material on the short arm. With fluorescent in situ hybridization and array-multiplex amplifiable probe hybridization methodology, a complex aberration was detected, with a deletion of the distal part of Xp22.33 (including the short-stature homeobox gene) and a duplication of Xp22.32-p22.12 proximal to the deleted segment. The deletion in our patient involves the Xp22.33 region. …
Factor structure of the Hospital Anxiety and Depression Scale in adolescent patients with chronic disease.
2018
The Hospital Anxiety and Depression Scale (HADS) is a screening instrument that assesses emotional symptoms in different populations and medical conditions. This study analyzes the psychometric properties and factor structure of the HADS in adolescents with chronic disease and the differences based on their medical condition.The HADS was administered to a sample of 302 adolescents with chronic disease. Exploratory factor analyses were done in a subsample of 100 adolescents, while confirmatory factor analyses were performed in the rest of participants (202) to examine the validity and reliability of the HADS (14 items); an analysis of variance for a single factor was also done to study diffe…
Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.
2012
<b><i>Background/Aims:</i></b> Mutations of the short stature homeobox-containing <i>(SHOX)</i> gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. <b><i>Patients and Design:</i></b> We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent au…
Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observation…
2019
Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Result…
A brief version of the Pediatric Inventory for Parents (PIP) in Spanish population: Stress of main family carers of chronic paediatric patients.
2018
A chronic illness in childhood has a negative impact on the paediatric patient and on family functioning. Psychological stress in parents influences the level of adjustment to the illness of their children. The Pediatric Inventory for Parents (PIP) was designed to measure stress in parents whose child has a chronic illness or requires prolonged medical monitoring. The main objective of this study is to provide a brief version of the Spanish translation of the PIP, across a sample consisting of 465 main familial caregivers (85.2% female, n = 396) between 27 and 67 years old ([Formula: see text] = 44.13; SD = 5.35) of paediatric patients between 9 and 18 years old ([Formula: see text] = 12.10…
Birth weight impacts on wave reflections in children and adolescents.
2003
The objective of the present study was to assess central aortic pressure and wave reflection in children and adolescents at different birth weights. Two hundred nineteen healthy children (126 girls), from 7 to 18 years of age (mean, 11.3 years) and born at term after a normotensive pregnancy, were included. The subjects were divided according to birth weight: <2.5 kg, from 2.5 to 2.999 kg, from 3.0 to 3.5 kg, and >3.5 kg. Pressure waveforms were recorded from the radial artery of the wrist, and the waveform data were then processed by the SphygmoCor radial/aortic transform software module to produce the estimated aortic pressure waveform. Augmentation index, an estimate of the pulse …
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
2012
Noonan syndrome with multiple giant cell lesions (NS/MGCL) was recently shown to be a phenotypic variation within the syndromes of the Ras/MAPK pathway and not an independent entity as previously thought. Here we report on a 13-year-old boy with a typical phenotype of NS including atrial septal defect, pulmonic stenosis, short stature, and combined pectus carinatum/excavatum, pronounced MGCL of both jaws, and a de novo mutation in PTPN11, c.236A>G (which predicts p.Q79R). Mutations in PTPN11 are the most frequent cause of NS and p.Q79R is a recurrent mutation in exon 3. Including this patient, 24 patients with molecularly confirmed NS, LEOPARD, or CFC/MGCL syndrome have been reported to dat…
Osteogenesis imperfecta: a clinical study of the first ten years of life.
1992
One hundred twenty-seven children with osteogenesis imperfecta (O.I.) were studied during the first 10 years of life. According to Sillence, 40 patients were assigned to type I, 39 to type III, and 48 to type IV O.I. Centiles for height, weight, and the annual number of fractures could be established for the different types of O.I. The development of the skeletal changes could be documented for the different forms of the disease. At birth, the skeletal changes were significantly more severe in type III than in type IV patients. During the first 10 years of life the number of fractures, extent of skeletal deformities, and growth retardation did not differ between types III and IV. Only fract…