Langer Mesomelic Dwarfism: Ultrasonographic Diagnosis of Two Cases in Early Mid-Trimester

Roth, P.; Agnani, G.; Arbez-Gindre, Francine; Maillet, R.; Colette, C

doi:10.1002/(sici)1097-0223(199603)16:3<247::aid-pd835>3.0.co;2-5

Cited by 10 publications

(6 citation statements)

References 3 publications

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“…2). Several subtypes are known to exist, including the Langer, Campailla-Martinelli, Maroteaux, Nievergelt, Robinow, Reinhardt-Pfeiffer and Werner types (2). Langer mesomelic dwarfism is an extensively reported type of mesomelic dysplasia, in which a hypoplastic ulna, fibula and mandible can be detected, together with an inconstant finding of cubital deviation of the hand.…”

Section: Mesomelic Dysplasiamentioning

confidence: 99%

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Ryu

Cho

Lee

et al. 2003

Ultrasound in Medicine & Biology

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Section: Mesomelic Dysplasiamentioning

confidence: 99%

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Ryu

Cho

Lee

et al. 2003

Ultrasound in Medicine & Biology

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“…Heterotaxy syndrome is an uncommon disease, with an incidence ranging from 1 in 6,000 to 1 in 20,000 live births [1,2]. This syndrome is characterized by major cardiac vascular malformations, congenital asplenia or polysplenia, and abnormal arrangement of the chest and abdominal organs.…”

Section: Introductionmentioning

confidence: 99%

Heterotaxy syndrome at adult age: A case report

Chen¹,

Mc²,

So³

2017

Anaesth Anaesth

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Heterotaxy syndrome, also known as Ivemark syndrome, is an uncommon disease characterized by cardiac vascular malformations, congenital asplenia or polysplenia, and abnormal arrangement of the chest and abdominal organs. We reported here, a young adult scheduled for emergency surgery due to right femoral shaft fracture. Surgery was postponed in suspicion of possible delayed intracranial hemorrhage (DICH). Computer tomorgraphy (CT) and cardiac catheterization revealed total occlusion of the Blalock-Taussig (B-T) shunt. The pathogenesis, clinical features, and management for patients with heterotaxy syndrome are discussed.

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“…Sonographic diagnosis of LMD in utero has been made as early as 17 weeks of gestation. 47 Histological analysis of LMD fetal growth plate revealed a disorganized proliferative zone with the loss of stacking arrangement of the chondrocytes in this zone, further highlighting the importance of SHOX in chondrocyte stacking, proliferation, and differentiation within the growth plate. 23 Differential diagnosis includes some of the rare but heterogeneous forms of mesomelic dysplasias that are predominantly inherited as autosomal dominant syndromes, including Nievergelt, Robinow's syndrome, Pfeiffer-Reinhardt, Werner's, Ellis-van Creveld syndrome, Campailla-Martinelli, and Maroteaux's.…”

mentioning

confidence: 98%

“…23 Differential diagnosis includes some of the rare but heterogeneous forms of mesomelic dysplasias that are predominantly inherited as autosomal dominant syndromes, including Nievergelt, Robinow's syndrome, Pfeiffer-Reinhardt, Werner's, Ellis-van Creveld syndrome, Campailla-Martinelli, and Maroteaux's. 39,47 Nievergelt is clinically noted as mesomelic dwarfism with forearm and leg deformities. Its radiological features include rhomboid-shaped forearm and leg bones, and multiple radioulnar, tarsal, and carpal synostoses.…”

mentioning

confidence: 99%

Imaging ofSHOX-Associated Anomalies

Gahunia¹,

Babyn²,

Kirsch³

et al. 2009

Semin Musculoskelet Radiol

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Human growth is a multifactorial trait influenced by environmental, hormonal, and genetic factors. Although it is clear that multiple factors contribute to an individual's final height and limb development, genetic factors play a crucial role. One such gene is the short stature homeobox ( SHOX) containing gene. Knowledge about the SHOX gene has rapidly increased since its discovery in 1997, and we now know that SHOX haploinsufficiency affects the development of the extremities and is an important cause of short stature. Currently, SHOX mutations occur with an estimated incidence of roughly 1 in 1000 newborns, making mutations of this gene one of the most common genetic defects associated with growth failure and skeletal deformities. Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%). Recognition of the early radiographic features encountered in SHOX haploinsufficiency maybe pivotal for the diagnosis. In this article, we summarize the genetic and clinical features of the various SHOX haploinsufficiency-associated disorders. We present the characteristic imaging features of these disorders and the results of growth hormone treatment trials.

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Langer Mesomelic Dwarfism: Ultrasonographic Diagnosis of Two Cases in Early Mid-Trimester

Cited by 10 publications

References 3 publications

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Heterotaxy syndrome at adult age: A case report

Imaging ofSHOX-Associated Anomalies

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