Rare features associated with Mobius syndrome: Report of two cases

Abstract

Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.

Update on 13 Syndromes Affecting Craniofacial and Dental Structures

“…The maxilla is mostly narrow and high arched, and cleft palate is present in about 30% of the cases (De Serpa Pinto et al, 2002 ; Stromland et al, 2002 ; Magalhaes et al, 2006 ). In their report on two patients with MBS Ghosh et al ( 2017 ) show a marked facial asymmetry in one of their patients; this patient also suffers from torticollis (Ghosh et al, 2017 ).…”

“…Other cranial nerves are also commonly involved. The prevalence rate of MBS is ~1 in 100,000 live births (Ghosh et al, 2017 ). The genetic etiology of the syndrome is heterogeneous with four genetic loci described: MBS1 on chromosome 13q12.2-q13, MBS2 on chromosome 3q21-q22, MBS3 on chromosome 10q21 and MBS4 on chromosome 1p22.5.…”

“…The genetic etiology of the syndrome is heterogeneous with four genetic loci described: MBS1 on chromosome 13q12.2-q13, MBS2 on chromosome 3q21-q22, MBS3 on chromosome 10q21 and MBS4 on chromosome 1p22.5. Various other etiologic factors have however been associated with MBS, including vascular interruption in the subclavian artery territory, infections, hyperthermia, trauma, and teratogens such as benzodiazepines, thalidomide, alcohol, cocaine, misoprostol, and ergotamine (Ghosh et al, 2017 ). Its proximal cause is the abnormal development—or absence—of the 7 th cranial nerve (facial) in 100% of patients and of the 6 th cranial nerve (abducens) in 75% of them.…”

“…Occasionally, other cranial nerves can also be affected (Verzijl et al, 2003 ); moreover, mild intellectual disability can occur in 10% of cases (Verzijl et al, 2003 ). MBS also comprises a large phenotype variation including variable features such as limb, and musculoskeletal, behavioral, and cognitive abnormalities (Van Der Zwaag et al, 2002 ; Verzijl et al, 2003 ; Ghosh et al, 2017 ). Recently, McClure et al ( 2016 ) reported that MBS is accompanied by an increased rate of several orthopedic problems, including clubfoot, scoliosis, and upper extremity differences that often require surgical treatment.…”

An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome

“…Moebius’ syndrome (MS, OMIM 157900) was first described by Graefe (1880) and then by Moebius in 1888. This is a rare congenital condition with approximate prevalence of 1:250,000 in live births and characterized by total or partial palsy of the facial and abducens nerves (VII and VI), usually bilateral, leading to impairment of facial expression and convergent strabismus with varied degrees of severity . Malformations of the feet and hands, besides impairment of other cranial nerves, may be present.…”