Dyschondrosteosis, a Hereditable Bone Dysplasia With Characteristic Roentgenographic Features

Langer, Leonard O.

doi:10.2214/ajr.95.1.178

Cited by 109 publications

(71 citation statements)

References 0 publications

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“…The frequent use of the dominant hand in activities such as gripping may have developed the forearm muscles leading to increased elbow circumference. Our findings of right directional asymmetry in elbow circumferential measurements (at 5cm above and at 5cm below the elbow joint) in a predominantly right handed sample population (42/48) add support to those reported in the literature [22,[28][29][30]. The percentage of right hand dominant case and control participants (88%) in our study approximates the percentage of handedness in the general population, i.e.…”

Section: Discussionsupporting

confidence: 90%

“…As shown by directional asymmetries of >0.50 difference between upper extremity anthropometric measurements notwithstanding measurements errors [22], arm length measurements demonstrated left directional asymmetry and elbow circumferential measurements (at all three levels) demonstrated right directional asymmetry in both case and control participants. Right directional asymmetry was found in elbow breadth measurements of case participant's only.…”

Section: Anthropometric Measurements By Gendermentioning

confidence: 91%

“…Arm length measurements reflect linear skeletal growth of upper extremity bones [20]. Directional asymmetry in arm length may indicate longitudinal bone growth abnormalities such as seen in bone dysplasias [21][22] and idiopathic scoliosis [20].…”

Section: Introductionmentioning

confidence: 99%

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Association between Lateral Epicondylalgia and Upper Extremity Anthropometric Measurements: A Case Control Study

Dones

Grimmer²,

Milanese³

et al. 2014

Int J Phys Med Rehabil

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Objectives: Directional asymmetry is a measure of departure from bilateral symmetry. In the upper extremities, directional asymmetry can be determined by comparing the anthropometric measurements of arm length, elbow circumference and elbow breadth of individuals with and without Lateral epicondylalgia. This study aimed to detect the presence of significant directional asymmetry in the upper extremities of individuals with Lateral epicondylalgia. Methods:Potential case and control participants were recruited from January 2011 to September 2011 in Manila, Philippines. To qualify as a case with Lateral epicondylalgia in the study, participants must have lateral elbow pain on at least one elbow, which was replicated by at least one of the provocation tests (Cozen, Mill or Maudsley test). A single case was ideally matched with two control participants based on gender, age, and occupation. Bilateral arm length, elbow circumference (at the level of the elbow joint, at 5cm above and 5cm below the elbow joint) were measured by the senior physiotherapist. The odds ratio using the using a General Linear Model Univariate Analysis approach was applied to examine the relationship between the differences in the upper extremity anthropometric measurements, diagnosis of LE (case or control) and hand dominance (right or left).Results: 52 individuals with 48 unilateral elbow pain and 4 bilateral elbow pain were eligible for the study. The cases were matched with 99 control participants with 198 non-symptomatic elbows. Hand dominance was found to be significantly associated with elbow circumferential measurements taken at the level of the lateral epicondyle, 5cm above the lateral epicondyle and 5cm below the lateral epicondyle (p<0.05). Presence or absence of Lateral epicondylalgia (case or control) was not significantly associated with any of the upper extremity anthropometric measurements (p>0.05) Conclusion: Arm length, elbow circumference, and elbow breadth were not associated with Lateral epicondylalgia in our sample.

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Section: Discussionsupporting

confidence: 90%

Section: Anthropometric Measurements By Gendermentioning

confidence: 91%

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Association between Lateral Epicondylalgia and Upper Extremity Anthropometric Measurements: A Case Control Study

Dones

Grimmer²,

Milanese³

et al. 2014

Int J Phys Med Rehabil

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“…Léri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by Madelung deformity and mesomelic short stature (Langer 1965). It is caused by haploinsufficiency of the short-stature homeobox-containing gene (SHOX) on the short arm pseudoautosomal region (PAR1) of the human sex chromosomes (Ogata 2002;Blaschke and Rappold 2006).…”

Section: Introductionmentioning

confidence: 99%

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

et al. 2008

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Although short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri-Weill dyschondrosteosis (LWD), the molecular defect has not been identified in *20% of Japanese LWD patients. Furthermore, although high prevalence of microdeletions affecting SHOX is primarily ascribed to the presence of repeat sequences such as Alu elements around SHOX, it remains to be determined whether microdeletions are actually mediated by repeat sequences. We performed multiple ligation probe amplification (MLPA) assay in six Japanese LWD patients with apparently normal SHOX, followed by fluorescent in situ hybridization (FISH) analysis and sequencing for polymerase chain reaction (PCR) products encompassing the deletion junctions in patients with abnormal MLPA patterns. Consequently, heterozygous intragenic deletions were identified in three cases, i.e., a 5,906-bp deletion involving exons 4-5 in case 1, a 5,594-bp deletion involving exons 4-6a in case 2, and a 50,199-bp deletion involving exons 4-6b in case 3. The deletion breakpoints of cases 1 and 2 were present in nonrepeat sequences, whereas those of case 3 resided within Alu elements. The results suggest that cryptic SHOX intragenic deletions account for a small fraction of LWD and that microdeletions affecting SHOX can be generated by repeat-sequence-mediated aberrant recombinations and by nonhomologous end joining.

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“…Familial occurrence of dyschondrosteosis was noted by Kaplan et al (1951). Bertaud and Auplat (1954), Morel-Pescarolo (1954), Maroteaux and Lamy (1959), Langer (1965), Fournier et al (1971), Kozlowski and Zychowicz (1971) and Carter and Currey (1974). The pedigree charts in these families shown in Fig.…”

Section: O [] Imentioning

confidence: 92%

Dyschondrosteosis with tibia vara —Report of three cases

Sugiura¹,

Tomita

1984

Jap J Human Genet

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Dyschondrosteosis, a Hereditable Bone Dysplasia With Characteristic Roentgenographic Features

Cited by 109 publications

References 0 publications

Association between Lateral Epicondylalgia and Upper Extremity Anthropometric Measurements: A Case Control Study

Association between Lateral Epicondylalgia and Upper Extremity Anthropometric Measurements: A Case Control Study

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

Dyschondrosteosis with tibia vara —Report of three cases

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