Arthrogryposis multiplex congenita: a 28‐year retrospective study

Wahlig, Brian; Poppino, Kiley; Jo, Chan-Hee; Rathjen, Karl E.

doi:10.1111/dmcn.15084

Cited by 5 publications

(6 citation statements)

References 24 publications

(60 reference statements)

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“…Most cases occur sporadically with around 400 gene mutations identified [2]. The prevalence is estimated to be 1 in 3000 live births [3].…”

Section: Introductionmentioning

confidence: 99%

Arthrogryposis Renal Dysfunction Cholestasis Syndrome: An Uncommon Presentation in a Newborn

Sreekumar

2024

J Clin Ped Res.

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A preterm baby born at 35 weeks of gestation was noted to have severe limb deformities suggestive of arthrogryposis along with dysmorphic facies and developed seizures, renal dysfunction in addition to cholestasis. MRI brain showed corpus callosum agenesis. Although there are several isolated cases of arthrogryposis, the association with other congenital anomalies are rarely seen. The constellation of anomalies noted in this case along with renal tubular dysfunction and direct hyperbilirubinemia with normal GGT is suggestive of Arthrogryposis renal dysfunction Cholestasis (ARC) syndrome. It is a very rare autosomal recessive multisystem disorder resulting from mutations in the vacuolar protein sorting 33B (VPS33B) or VPS33B-interacting protein, and apical-basolateral polarity regulator (VIPAR) genes. This disorder is associated with a very poor prognosis with children seldom surviving beyond 1 year of age necessitating a detailed genetic evaluation to identify the various mutations and appropriate genetic counselling.

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“…Most cases occur sporadically with around 400 gene mutations identified [2]. The prevalence is estimated to be 1 in 3000 live births [3].…”

Section: Introductionmentioning

confidence: 99%

Arthrogryposis Renal Dysfunction Cholestasis Syndrome: An Uncommon Presentation in a Newborn

Sreekumar

2024

J Clin Ped Res.

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“…We have recently published a review describing the orthopaedic presentation of patients with arthrogryposis over a period of almost 3 decades. 14 In this review we used 3 categories similar to Bamshad: (1) classic amyoplasia and general arthrogryposis, (2) distal arthrogryposis, and (3) syndromic arthrogryposis. Patients with classic amyoplasia present with characteristic upper extremity deformity (shoulder internal rotation, elbow extension, and wrist flexion) and variable lower extremity deformity.…”

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confidence: 99%

“…In 2009, Bamshad et al 2 separated arthrogryposis into 3 major categories: amyoplasia, distal arthrogryposis, and syndromic forms. We have recently published a review describing the orthopaedic presentation of patients with arthrogryposis over a period of almost 3 decades 14 . In this review we used 3 categories similar to Bamshad: (1) classic amyoplasia and general arthrogryposis, (2) distal arthrogryposis, and (3) syndromic arthrogryposis.…”

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confidence: 99%

Spinal Fusion in Patients With Classic Amyoplasia and General Arthrogryposis

Riepen,

Lachmann,

Wahlig

et al. 2023

Journal of Pediatric Orthopaedics

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Background: Arthrogryposis multiplex congenita is a group of conditions characterized by joint contractures affecting 2 or more joints. This study describes results of spinal fusion in patients with classic amyoplasia and general arthrogryposis. Methods: IRB approved retrospective review of patients with a diagnosis of classic amyoplasia and general arthrogryposis who had a primary definitive posterior spinal fusion between 1990 and 2017 at a single pediatric institution. Patients with distal and syndromic arthrogryposis were excluded as well as patients treated with growth-sparing spinal instrumentation. The Modified Clavien-Dindo-sink (MCDS) classification system was used to describe postoperative complications. Results: Over the 28-year period, 342 patients were diagnosed with amyoplasia and general arthrogryposis. Among the 342 patients, 60 (18%) had scoliosis, and 22 (6% of the cohort and 37% of those with scoliosis) were treated surgically. Six patients had growth-sparing techniques, initial fusion elsewhere, or ˂1 year of follow-up, leaving 15 patients. Of the 15, 9 (60%) had a posterior spinal fusion (PSF) and 6 (40%) had a combined anterior spinal fusion (ASF)/PSF. The ASF/PSF group was significantly younger at surgery, had a greater American Society of Anesthesiologists status, longer surgery duration, and lower implant density. The average preoperative major coronal deformity in ASF/PSF patients (108 degrees) was greater than patients treated with PSF alone (88 deg). There were 11 complications in 7 patients, with the most common being deep infection requiring reoperation (5/11, 45%). There was 1 instance (1/11, 9%) of each: prolonged intensive care unit admission (>72 h), superficial wound dehiscence, symptomatic implants requiring removal/revision, coronal plane progression requiring extension of fusion, recurrent pneumothorax requiring return to OR, and pseudoarthrosis leading to implant failure (without revision). Complications occurred in 1/9 (11%) PSF-only patients and 6/6 (100%) ASF/PSF patients with all 6 ASF/PSF patients requiring at least 1 reoperation. The average coronal correction was 48% in the PSF-only group and 28% in the ASF/PSF group. Conclusion: Complication rates after spinal fusion for scoliosis in arthrogryposis multiplex congenita patients are high, especially in patients undergoing ASF/PSF, deep infection is common, and major coronal plane curve correction is modest. Level of Evidence: II Retrospective Study.

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“…Therefore, developing a specific classification system has been an important topic of discussion. Wahlig et al 1 . describe one of the largest retrospective reviews of pediatric patients presenting with AMC at a single institution over a 28‐year period.…”

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confidence: 99%

“…Therefore, developing a specific classification system has been an important topic of discussion. Wahlig et al 1 describe one of the largest retrospective reviews of pediatric patients presenting with AMC at a single institution over a 28-year period. Their aim was to classify children with AMC into three distinct groups, report the frequency of various musculoskeletal involvements, and determine the rate of operative treatment.…”

mentioning

confidence: 99%