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

Reggie Hamdy,Taylor N Blondell,Harold Van Bosse,Noémi Dahan-Oliel,Ghalib Bardai,Klaus Dieterich,Kamran Shazand,Frank Rauch,Xenia Latypova,Philip F Giampietro,Anxhela Gjyshi Gustafson

doi:10.3390/genes12081220

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.

Highlights

Introduction iationsThe term pterygium is used most commonly to describe an acquired ophthalmologic condition, with a conjunctival “wing” or flap that can cross the cornea
The 12 patients (7 females) with Multiple pterygium syndrome (MPS) and scoliosis were from 11 unrelated nonconsanguineous families
History was positive in one family (F6), with presence of clinical features of Escobar and scoliosis in the mother and maternal aunt of the index patient (P7)

Summary

Introduction

Introduction iationsThe term pterygium is used most commonly to describe an acquired ophthalmologic condition, with a conjunctival “wing” or flap that can cross the cornea. More than one joint and body region is involved, meeting the criteria for arthrogryposis multiplex congenita [1]. MPS is a rare form of arthrogryposis multiplex characterized by a constellation of congenital anomalies [2]. 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. A molecular diagnosis was confirmed in seven; two with MYH3 variants and five with CHRNG.

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Discussion

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