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Familial Short Stature

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1. Assessment of short stature

towards the end of puberty and achieve greater height velocities than girls. This, combined with the fact that boys grow for approximately 2 years more than girls, explains the 13 cm (5 inches) difference in final heights between the sexes. Differentials Familial short stature (genetic short stature) Constitutional delay of growth and development Idiopathic short stature Small for gestational age (SGA) without catch-up growth by 2 years of age Growth hormone (GH) deficiency Hypothyroidism Cushing (...) Assessment of short stature Assessment of short stature - Differential diagnosis of symptoms | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Assessment of short stature Last reviewed: February 2019 Last updated: October 2018 Summary Short stature is defined as a height that is two or more standard deviations below the mean for age and gender within a population (below the 2.5th percentile). Growth deceleration is defined as a growth velocity

2018 BMJ Best Practice

2. Assessment of short stature

towards the end of puberty and achieve greater height velocities than girls. This, combined with the fact that boys grow for approximately 2 years more than girls, explains the 13 cm (5 inches) difference in final heights between the sexes. Differentials Familial short stature (genetic short stature) Constitutional delay of growth and development Idiopathic short stature Small for gestational age (SGA) without catch-up growth by 2 years of age Growth hormone (GH) deficiency Hypothyroidism Cushing (...) Assessment of short stature Assessment of short stature - Differential diagnosis of symptoms | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Assessment of short stature Last reviewed: February 2019 Last updated: October 2018 Summary Short stature is defined as a height that is two or more standard deviations below the mean for age and gender within a population (below the 2.5th percentile). Growth deceleration is defined as a growth velocity

2018 BMJ Best Practice

3. Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation (PubMed)

features, serving as diagnostic clues. From family 1, a 6-year-old boy presented with short stature [height standard deviation score (SDS), -1.75] and bone age advanced by 3 years. There was no family history of short stature (height SDS: father, -0.76; mother, 0.7). Exome sequencing followed by Sanger sequencing identified a de novo novel heterozygous frameshift mutation in ACAN (c.6404delC: p.A2135Dfs). From family 2, a 12-year-old boy was evaluated for short stature (height SDS, -3.9). His bone age (...) at the time of genetic evaluation was approximately 1 year less than his chronological age. Family history was consistent with an autosomal dominant inheritance of short stature, with several affected members also showing early-onset osteoarthritis. Exome sequencing, confirmed by Sanger sequencing, identified a novel nonsense mutation in ACAN (c.4852C>T: p.Q1618X), which cosegregated with the phenotype. In conclusion, patients with ACAN mutations may present with nonfamilial short stature and with bone

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2017 Journal of the Endocrine Society

4. High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone. (PubMed)

High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone. Familial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of multiple genes, more severe short stature is suggestive of a monogenic condition. The etiology of most FSS cases has not been thoroughly elucidated to date.To identify the genetic etiology of severe FSS in children treated (...) variants are frequent among families with severe FSS, with variants affecting the growth plate being the most prevalent.

2019 Journal of Clinical Endocrinology and Metabolism

5. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. (PubMed)

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unknown ACAN gene variant reduces adult (...) height and we analyze the GH response in children from an affected large Chinese family.Two children initially diagnosed with idiopathic short stature (ISS) and a third mildly short child from a large Chinese family presented with poor GH response. Genetic etiology was identified by whole exome sequencing and confirmed via Sanger sequencing. Adult heights were analyzed, and the responses to GH treatment of the proband and two affected relatives are summarized and compared to other cases reported

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2018 BMC Medical Genetics

6. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature (PubMed)

Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals (...) with short stature. Physical exam revealed short stature, with height standard deviation score (SDS) of -2.98, as well as arm span 3 cm less than his height. His laboratory workup was noncontributory for common etiologies of short stature. Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582. This mutation is predicted to cause termination of the SHOX protein

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2017 Case reports in endocrinology

7. GH Deficiency, Idiopathic Short Stature, and IGF-I Deficiency treatment guidelines

GH Deficiency, Idiopathic Short Stature, and IGF-I Deficiency treatment guidelines E-Mail karger@karger.com Clinical Practice Committee Publication Horm Res Paediatr 2016;86:361–397 DOI: 10.1159/000452150 Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency Adda Grimberg a, b Sara A. DiVall c, d Constantin Polychronakos e David B. Allen f, g (...) considerably. This report serves to update the 2003 guidelines by following the approach recom- mended by the Grading of Recommendations, Assess- ment, Development, and Evaluation (GRADE) group [2] . The large number of approved indications for GH treat- ment is too unwieldy to review in this manner in a single document. Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges of- ten blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I

2016 Pediatric Endocrine Society

8. Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan (PubMed)

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case

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2017 Scientific reports

9. ACAN mutations as a cause of familial short stature (PubMed)

ACAN mutations as a cause of familial short stature Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature

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2017 Clinical Pediatric Endocrinology

10. A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report (PubMed)

A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (CeH) and macroorchidism. Here, we report on a patient presenting with short stature, who was found to carry a pathogenic mutation in the IGSF1 gene.A 14-year-old Israeli boy was referred to the Academic Medical Center in Amsterdam, The Netherlands, for follow-up on short stature ascribed to constitutional (...) delay of growth and puberty, and familial hypercholesterolemia. Primary hypothyroidism had previously been excluded by a normal thyroid-stimulating hormone (TSH) concentration. However, in follow-up, plasma free thyroxine (FT4) concentrations were repeatedly low, and the patient was diagnosed with CeH. Because of coexistent relative macroorchidism, IGSF1 gene analysis was performed, revealing a mutation (c.2588C>G; p.Ser863Cys). The mutant IGSF1 protein was retained mainly in the endoplasmic

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2017 Journal of the Endocrine Society

11. Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. (PubMed)

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequencing in 254 unrelated families with short stature of unknown cause and identified variants in 63 (...) candidate genes in 92 (36%) independent families. Based on systematic characterization of variants and functional analysis including expression in chondrocytes, we classified 13 genes as strong candidates. Whereas variants in at least two families were detected for all 13 candidates, two genes had variants in 6 (UBR4) and 8 (LAMA5) families, respectively. To facilitate their characterization, we established a clustered network of 1025 known growth and short stature genes, which yielded 29 significantly

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2019 European Journal of Human Genetics

12. Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. (PubMed)

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain. Brachydactyly type E, which can be an isolated finding or part of a syndrome in combination with other clinical anomalies, involves metacarpals and metatarsals with or without short phalanges. Herein we report two unrelated Turkish females who presented with brachydactyly type E and vitamin D deficiency in the absence of marked alterations in serum calcium, phosphate (...) , and parathyroid hormone. After excluding disease-causing variants in two candidate genes, PTHLH and PDE4D, we identified different pathogenic variants in TRPS1, the gene mutated in patients with tricho-rhino-phalangeal syndrome (TRPS). In one of the patients, who displayed severe brachydactyly and short stature, we identified a novel heterozygous missense pathogenic variant in exon 6 (c.2783A>G, p.Tyr928Cys), located within the GATA DNA-binding domain. The second patient, who had relatively milder

2019 Bone

13. Explaining parent-child (dis)agreement in generic and short stature-specific health-related quality of life reports: do family and social relationships matter? (PubMed)

Explaining parent-child (dis)agreement in generic and short stature-specific health-related quality of life reports: do family and social relationships matter? In the context of health-related quality of life (HrQoL) assessment in pediatric short stature, the present study aimed to examine the levels of agreement/disagreement between parents' and children's reports of generic and condition-specific HrQoL, and to identify socio-demographic, clinical and psychosocial variables associated (...) with the extent and direction of parent-child discrepancies.This study was part of the retest phase of the QoLISSY project, which was a multicenter study conducted simultaneously in France, Germany, Spain, Sweden and UK. The sample comprised 137 dyads of children/adolescents between 8 and 18 years of age, diagnosed with growth hormone deficiency (GHD) or idiopathic short stature (ISS), and one of their parents. The participants completed child- and parent-reported questionnaires on generic (KIDSCREEN-10 Index

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2016 Health and quality of life outcomes

14. Familial Short Stature

Familial Short Stature Familial Short Stature Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Familial Short Stature Familial Short (...) Stature Aka: Familial Short Stature From Related Chapters II. Signs Short parents Normal birth history and gestational weight Normal for age consistent with Normal age for the onset of Absence of organic or psychologic disease Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Familial Short Stature." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Ontology

2018 FP Notebook

15. A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation

A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record (...) Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal

2018 Clinical Trials

16. Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)

Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please (...) remove one or more studies before adding more. Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03435627 Recruitment Status : Enrolling by invitation First Posted : February 16, 2018 Last Update Posted

2018 Clinical Trials

17. Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature. (PubMed)

Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature. Premature ovarian insufficiency (POI) is a group of heterogeneous disorders characterized by decreased ovarian reserve and increased follicle stimulating hormone (FSH) levels. It is rarely associated with short stature. FIGLA mutations with POI are identified with regard to heterozygosity; till date, only one affected family has been identified with homozygous mutations in FIGLA (...) but without functional evaluation. Here, we described two POI patients from a consanguineous family from China. An 18-year-old girl and her sister presented with primary amenorrhea and increased FSH and luteinizing hormone levels, but the sister also presented with short stature and bone age delay. Whole-genome sequencing analysis identified a recurrent homozygous mutation in the FIGLA gene, c.2 T > C (p.Met1Thr), in this family member with POI; this variant was segregated within the pedigree. This change

2018 Clinical Genetics

18. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. (PubMed)

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs∗20), c.1348C>T (p.Arg450∗), and a deletion of the penultimate exon 15. All these individuals have intellectual disability with speech delay, short stature, microcephaly, and aggressive behavior. PUS7 encodes the RNA-independent pseudouridylate

2018 American Journal of Human Genetics

19. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants. (PubMed)

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants. The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA (...) ). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8 year old boy with the same pattern of MCA. The phenotype of these patients is characterized by postnatal short stature, skeletal anomalies of the thorax, a minor congenital heart or vascular defect, camptodactyly, micropenis, and variable additional anomalies. Motor development is delayed in both patients, and intellectual development is delayed in one patient

2017 Clinical Genetics

20. IHH gene mutations causing short stature with non-specific skeletal abnormalities and response to growth hormone therapy. (PubMed)

IHH gene mutations causing short stature with non-specific skeletal abnormalities and response to growth hormone therapy. Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders.To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy.We studied 17 families with autosomal-dominant short stature by using whole exome sequencing (...) and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants.We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two

2017 Journal of Clinical Endocrinology and Metabolism

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