Disease relevance of Mobius Syndrome

• METHODS: We compared the frequency of misoprostol use during the first trimester by mothers of infants in whom Möbius' syndrome was diagnosed and mothers of infants with neural-tube defects in Brazil [1].
• We propose that vasoconstrictive or mechanical effects, or both, of abortifacient drugs such as ergotamine and misoprostol may account for other cases of Möbius syndrome, and we suggest that uterine contraction from any cause, at about the sixth or seventh week of pregnancy, may cause this birth defect [2].
• Southern analysis of patients from the Möbius syndrome 2 family and 41 isolated Möbius syndrome patients did not reveal chromosomal abnormalities in the PLEXIN-D1 gene [3].
• Because autism has been observed in a few cases of Möbius sequence (Möbius syndrome), a condition characterized by involvement of the sixth and seventh cranial nerves, the similarity to early thalidomide embryopathy suggested a relation between cranial nerve involvement and autism [4].
• Dextrocardia and ventricular septal defect in the Möbius syndrome [5].

High impact information on Mobius Syndrome

• Use of misoprostol during pregnancy and Möbius' syndrome in infants [1].
• SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome [6].
• Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2) [7].
• Moreover, this study underscores the importance of considering FSHD in cases of infantile facial diplegia, especially in patients not demonstrating the full clinical features of Möbius syndrome [8].
• The pattern of malformations in congenital anomalies such as Möbius syndrome and following prenatal cocaine exposure suggests that there is a zone of vascular vulnerability or ischemic sensitivity in the paramedian region of the developing brain stem [9].

Biological context of Mobius Syndrome

• We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22 [3].

Gene context of Mobius Syndrome

• Mobius syndrome associated with ventricular septal defect [10].
• Strabismus surgery in children with Möbius syndrome [11].
• Möbius syndrome in a patient with alpha 1 antitrypsin deficiency [12].

Analytical, diagnostic and therapeutic context of Mobius Syndrome

• Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients [3].

References