The Weismann-Netter Syndrome: A Cause of Bowed Legs in Childhood

PEDIATRICS ◽  
1991 ◽  
Vol 88 (2) ◽  
pp. 334-337
Author(s):  
GARY L. FRANCIS ◽  
JAMES J. JELINEK ◽  
KATHLEEN MCHALE ◽  
MEGAN ADAMSON ◽  
SONDRA W. LEVIN
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Skeletal Dysplasia ◽  
Full Term ◽  
Pediatric Age ◽  
Uncomplicated Pregnancy ◽  
Age Range

The Weismann-Netter syndrome is a rare, heritable skeletal dysplasia which often presents as asymptomatic bowing of the lower legs or short stature.1 Although more than 40 cases have been described, there is mention of only 8 cases in patients who were younger than 16 years of age.1-9 In retrospect, most of the affected adults reported symptoms during childhood. We recently had the opportunity to evaluate a 4-year-old boy, whom we believe to have the Weismann-Netter syndrome. This case served to heighten our awareness of this condition, which should be recognizable in the pediatric age range. CASE REPORT The proband (Fig 1), a four-year-old Arabic boy, was the product of a full-term, uncomplicated pregnancy.

Atypical Osteoid Osteoma of sacral region in pediatric age group: a case report

2017 ◽  
pp. 28-31
Author(s):  
Shashi Sharma ◽  
Sakshi Dewan ◽  
Naveen Bhardwaj ◽  
Mir Aziz ◽  
Shilpa Singh ◽  
...  
Keyword(s):  
Case Report ◽  
Osteoid Osteoma ◽  
Age Group ◽  
Pediatric Age ◽  
Sacral Region ◽  
Pediatric Age Group ◽  
Group A

scholarly journals A Challenging Case of a Physeal Bar Endoscopic-Assisted Resection in a Short Stature Child: Case Report and Literature Review

2021 ◽  
pp. 115-120
Author(s):  
Melanie Ribau ◽  
Mário Baptista ◽  
Nuno Oliveira ◽  
Bruno Direito Santos ◽  
Pedro Varanda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Short Stature ◽  
Clinical Presentation ◽  
Normal Growth ◽  
Limb Length Discrepancy ◽  
Complete Excision ◽  
Physeal Bar ◽  
Surgical Options ◽  
The Ideal

Partial physeal bars may develop after injury to the growth plate in children, eventually leading to disturbance of normal growth. Clinical presentation, age of the patient, and the anticipated growth will dictate the best treatment strategy. The ideal treatment for a partial physeal bar is complete excision to allow growth resumption by the remaining healthy physis. There are countless surgical options, some technically challenging, that must be weighted according to each case’s particularities. We reviewed the current literature on physeal bars while reporting the challenging case of a short stature child submitted to a femoral physeal bar endoscopic-assisted resection with successful growth resumption. This case dares surgeons to consider all options when treating limb length discrepancy, such as the endoscopic-assisted resection which might offer successful results.

scholarly journals Severe acquired cytomegalovirus infection in a full-term, formula-fed infant: Case Report

2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Alberto Berardi ◽  
Cecilia Rossi ◽  
Valentina Fiorini ◽  
Cristina Rivi ◽  
Federica Vagnarelli ◽  
...  
Keyword(s):  
Case Report ◽  
Cytomegalovirus Infection ◽  
Full Term ◽  
Infant Case

Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V

2020 ◽  
Vol 33 (6) ◽  
pp. 743-750
Author(s):  
Ji Hyun Kim ◽  
Dong Ho Kim ◽  
Jung Sub Lim
Keyword(s):  
Short Stature ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Nationwide Survey ◽  
Population Based ◽  
Full Term ◽  
Stunted Growth ◽  
Growth Status ◽  
Health And Nutrition ◽  
Parental Height

AbstractObjectivesSmall for gestational age (SGA) status is known to show stunted growth and results in short stature in adults. The aim of this study was to describe the current short stature in subjects born SGA in Korea and to assess catch-up growth (CUG) or non-CUG.MethodsWe analyzed data from 3,524 subjects (1,831 male) aged 1–18 years who were born as full-term singletons and who participated in the Fifth Korean National Health and Nutrition Examination Survey (2010–2011).ResultsThe prevalence of SGA was 13.4% (n=471). Subjects born SGA had fathers with shorter height, shorter mother’s height, and mid-parental height than non-SGA subjects (p<0.05 for all). The odds ratios (ORs) for SGA birth of a short statured father and a short statured mother were 2.00 (95% CI; 1.15–3.47) and 2.11 (95% CI; 1.30–3.40), respectively. Among 471 SGA subjects, 28 subjects (5.9%) were non-CUG, which made up 36.4% of all subjects with short stature. The CUG subjects had a higher father's height, mother’s height, mid-parental height, and current BMI (p<0.05 for all). The non-CUG subjects had a higher percentage of fathers being near-short stature (height<10th percentile; 33.3 vs. 12.7%; p=0.008) and mothers being near-short stature (39.3 vs. 13.9%; p<0.001).ConclusionKorean subjects born SGA had a higher risk of current short stature. This population-based nationwide survey also showed that both father’s and mother’s short stature are risk factors of not only SGA birth but also non-CUG in their children.

The challenge of paediatric acquired demyelinating syndromes (ADS) in pediatric age: A case report description and a flow-chart proposal

2021 ◽  
Vol 429 ◽  
pp. 118874
Author(s):  
Mattia Pozzato ◽  
Vera Pacoova Dal Maschio ◽  
Sophie Guez ◽  
Alessandra Tozzo ◽  
Francesca Andreetta ◽  
...  
Keyword(s):  
Case Report ◽  
Flow Chart ◽  
Pediatric Age

PNEUMATOSIS INTESTINALIS

PEDIATRICS ◽  
1951 ◽  
Vol 7 (4) ◽  
pp. 537-549
Author(s):  
ELLEN P. MACKENZIE
Keyword(s):  
Respiratory Disease ◽  
Clinical Diagnosis ◽  
General Condition ◽  
Clinical Picture ◽  
Pediatric Patients ◽  
Pneumatosis Intestinalis ◽  
Pediatric Age ◽  
Infantile Diarrhea ◽  
Age Range

Thirteen cases of pneumatosis intestinalis are reported, 12 of them in infants between 12 days and 12 months of age, one in a boy of 6 years. Review of these cases and of 32 reported cases falling within the pediatric age range discloses that the disease occurs most frequently in patients whose general condition is poor, that it is very often associated with congenital or acquired disease of the intestine, and that respiratory disease, usually infectious, frequently co-exists. The presence of pneumatosis in pediatric patients has so far been discovered only at autopsy, but clinical diagnosis, with the aid of the typical roentgenologic findings, is feasible and may be accomplished when the disease is more widely known. The clinical picture and roentgenographic findings in adults are reviewed. The most acceptable theories concerning the pathogenesis are discussed, with their possible relation to infantile diarrhea.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

2021 ◽  
Author(s):  
Lucia Sentchordi-Montané ◽  
Sara Benito-Sanz ◽  
Miriam Aza-Carmona ◽  
Francisca Díaz-González ◽  
Silvia Modamio-Høybjør ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Genetic Defect ◽  
Radiological Feature ◽  
Molecular Defect ◽  
Skeletal Dysplasias ◽  
Skeletal Anomalies ◽  
Radiological Data ◽  
High Prevalence ◽  
Next Generation Sequencing Ngs

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n=10) and IHH (n=7) whilst one variant was detected in COL2A1, CREBBP, EXT1 and PTPN11. Statistically significant differences (p<0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio SDS and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.

Sign in / Sign up

Export Citation Format

Share Document