Dataset Information

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

ABSTRACT:

Background

Multiple pterygium syndrome (MPS) is a genetically heterogeneous rare form of arthrogryposis multiplex congenita characterized by joint contractures and webbing or pterygia, as well as distinctive facial features related to diminished fetal movement. It is divided into prenatally lethal (LMPS, MIM253290) and nonlethal (Escobar variant MPS, MIM 265000) types. Developmental spine deformities are common, may present early and progress rapidly, requiring regular fo llow-up and orthopedic management.

Methods

Retrospective chart review and prospective data collection were conducted at three hospital centers. Molecular diagnosis was confirmed with whole exome or whole genome sequencing.

Results

This case series describes the clinical features and scoliosis treatment on 12 patients from 11 unrelated families. A molecular diagnosis was confirmed in seven; two with MYH3 variants and five with CHRNG. Scoliosis was present in all but our youngest patient. The remaining 11 patients spanned the spectrum between mild (curve ≤ 25°) and malignant scoliosis (≥50° curve before 4 years of age); the two patients with MYH3 mutations presented with malignant scoliosis. Bracing and serial spine casting appear to be beneficial for a few years; non-fusion spinal instrumentation may be needed to modulate more severe curves during growth and spontaneous spine fusions may occur in those cases.

Conclusions

Molecular diagnosis and careful monitoring of the spine is needed in children with MPS.

SUBMITTER: Dahan-Oliel N

PROVIDER: S-EPMC8391526 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:IntroductionPterygium is a benign conjunctival fibrovascular neoformation progressively encroaching on the cornea, it can cause corneal distortion and induce astigmatism, or aggravate pre-existing physiological astigmatism, which is defined as ≤ 0.50 D and not requiring optical correction. The radical treatment of pterygium is purely surgical, with conjunctivo-limbal grafting and conjunctival autografting emerging as the surgical techniques of choice. The main objective of the study was to investigate whether pterygium surgery does not worsen the preoperative physiological astigmatism.Material and methodsThis is a prospective cohort study conducted in the ophthalmology department of the Mohammed V Military Hospital in Rabat over a period of 12 months, including 43 stage II/III/IV pterygia that were operated on by conjunctival autograft by the same surgeon. First, we looked for an association between pterygium surgery and variations in astigmatism. For quantitative variables we used the Wilcoxon test. In a second step we split the file into two distinct groups according to the value of preoperative astigmatism≤ 0.5 D or >0.5 D in order to detect the impact of pterygium surgery on physiological astigmatism. Statistical analysis of the data was performed by comparing the distribution of these characteristics.ResultsThe median astigmatism was 1 D (0.25; 2.50). 35% of our population had preoperative astigmatism ≤0.5 D. The Wilcoxon test showed that there was a statistically significant difference between preoperative and postoperative astigmatism (p = 0.001). The paired sample T-test showed no statistically significant difference between the preoperative and postoperative outcome in the physiological astigmatism population (p = 0.53).ConclusionMany studies have shown the benefits of pterygium excision on astigmatism, but few studies have specified the impact of this surgery on physiological astigmatism. Our study showed that pterygium surgery does not alter physiological astigmatism.