Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features

TY - JOUR

T1 - Will the real Moebius syndrome please stand up?

T2 - A systematic review of the literature and statistical cluster analysis of clinical features

AU - Bell, Chris

AU - Nevitt, Sarah

AU - McKay, Victoria H

AU - Fattah, Adel Y

N1 - © 2018 Wiley Periodicals, Inc.

PY - 2019/2

Y1 - 2019/2

N2 - Moebius syndrome is a highly variable syndrome with abducens and facial nerve palsy as core features. Strict diagnostic criteria do not exist and the inconsistency of the associated features makes determination difficult. To determine what features are associated with Moebius syndrome we performed a systematic literature review resulting in a composite case series of 449 individuals labeled with Moebius syndrome. We applied minimum criteria (facial and abducens palsy) to determine the prevalence of associated clinical features in this series. Additionally, we performed statistical cluster analysis to determine which features tended to occur together. Our study comprises the largest series of patients with Moebius syndrome and the first to apply statistical methodology to elucidate clinical relationships. We present evidence for two groups within the Moebius diagnosis. Type 1: exhibiting micrognathia, limb anomalies and feeding/swallowing difficulty that tend to occur together. Type 2: phenotypically diverse but more associated with radiologically detectable neurologic abnormalities and developmental delay.

AB - Moebius syndrome is a highly variable syndrome with abducens and facial nerve palsy as core features. Strict diagnostic criteria do not exist and the inconsistency of the associated features makes determination difficult. To determine what features are associated with Moebius syndrome we performed a systematic literature review resulting in a composite case series of 449 individuals labeled with Moebius syndrome. We applied minimum criteria (facial and abducens palsy) to determine the prevalence of associated clinical features in this series. Additionally, we performed statistical cluster analysis to determine which features tended to occur together. Our study comprises the largest series of patients with Moebius syndrome and the first to apply statistical methodology to elucidate clinical relationships. We present evidence for two groups within the Moebius diagnosis. Type 1: exhibiting micrognathia, limb anomalies and feeding/swallowing difficulty that tend to occur together. Type 2: phenotypically diverse but more associated with radiologically detectable neurologic abnormalities and developmental delay.

KW - Abducens Nerve/physiopathology

KW - Developmental Disabilities/epidemiology

KW - Facial Nerve Diseases/epidemiology

KW - Facial Paralysis/epidemiology

KW - Female

KW - Humans

KW - Male

KW - Mobius Syndrome/epidemiology

U2 - 10.1002/ajmg.a.60683

DO - 10.1002/ajmg.a.60683

M3 - Article

C2 - 30556292

SN - 1552-4825

VL - 179

SP - 257

EP - 265

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 2

ER -