Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Becker, Rolf; Wegner, R. D.; Kunze, J; Runkel, Sanyukta; Vogel, M; Entezami, Michael

doi:10.1034/j.1399-0004.2000.570210.x

Cited by 26 publications

(23 citation statements)

References 5 publications

(5 reference statements)

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“…CT-based preoperative planning [19] proved to be very helpful in the current cases. Our findings confirm the observation of a high inter-individual variability of the bony deformities in Larsen syndrome even among members of the same family [20]. …”

Section: Discussionsupporting

confidence: 91%

One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome

Merle¹,

Waldstein²,

Lipman³

et al. 2016

Open Orthopaedics J.

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Background:Larsen syndrome is a rare genetic disorder caused by congenital weakness of the connective tissues. It can present with a variety of musculoskeletal and cardiovascular abnormalities. The current report describes two siblings with Larsen Syndrome who presented with severe bilateral hip arthritis and underwent one stage bilateral total hip arthroplasty (THA). The aim was to report on the clinical features of Larsen Syndrome and their implications for total hip replacement surgery.Methods:Two siblings, a 32 year-old female and a 30 year-old male, presented with severe bilateral hip arthritis and a history of Larsen Syndrome. Both patients underwent a detailed, multidisciplinary preoperative medical work up and radiological imaging including computer tomography. All four hips were operated using a cementless primary press-fit cup (Pinnacle, DePuy, Warsaw, IN) and a cementless modular stem system (S-ROM, DePuy, Warsaw, IN) utilizing a posterior approach. Prophylactic cerclages wires were placed proximal to the lesser trochanter before stem preparation and bone grafting of bone cysts in the greater trochanter was performed in all four hips.Results:After 2 years both patients reported significant improvements of function, pain and quality of life. The Oxford hip score improved from preoperative 21 (range 12-24) points up to 39 (range 38-41) points at 2-year follow up. Radiographic follow-up showed good graft incorporation and no signs of implant loosening.Conclusion:The current case report suggests that one stage bilateral THA is a feasible treatment option for young adults with Larsen syndrome and secondary arthritis of the hip.

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Section: Discussionsupporting

confidence: 91%

One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome

Merle¹,

Waldstein²,

Lipman³

et al. 2016

Open Orthopaedics J.

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“…2,4,6,8,32 However, in this case, the prenatal diagnosis of Larsen syndrome was suspected based on the presence of hip and knee dislocations (joint laxity), the absence of extreme stiffness of joints and muscle dystrophy, micrognathia, hypertelorism, frontal bossing, and prior positive family history. Most authors believe that the anterior dislocation of the knees can be considered the cardinal feature of this syndrome, which correlates with the findings in this case.…”

Section: Discussionmentioning

confidence: 98%

Larsen Syndrome

Ghazle

2012

Journal of Diagnostic Medical Sonography

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Larsen syndrome is a rare inherited disorder of collagen formation with multiple joint dislocations, cardiac abnormalities, short stature, talipes equinovarus, short and broad fingertips, spatula-like thumbs, supernumerary ossification center in the calcaneus, hearing loss, neurologic impairment, cryptorchidism, and characteristic craniofacial abnormalities. The sonographic prenatal findings in a case of Larsen syndrome at 26 weeks' gestation, which demonstrated joint dislocations, hypertelorism, frontal bossing, micrognathia, and upper and lower limb shortening and confirmed at both 29 and 30 weeks' gestation, are presented and discussed. When evaluating patients with a positive family history of Larsen syndrome, sonographers should carefully scan and meticulously assess the fetal extremities for signs of dislocation and the face for signs of flat features, hypertelorism, micrognathia, and depressed nasal bridge, distinctive features of the syndrome.

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“…Joints should be examined for club feet, multiple joint dislocations at elbow, hips, knee and abnormal joint positions. 5 Recently it is known that autosomal dominant variety of the disorder, is caused by missense mutations or small frame deletions in FLNB, encoding the cytoskeletal protein filamin B on the short arm of chromosome 3. Occasional findings include hydrocephalus, clinodactyly, supernumerary carpal bones and digits.…”

Section: Sirmentioning

confidence: 99%