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- W2036705564 abstract "Möbius sequence is a rare congenital cranial dysinnervation disorder, characterized by facial weakness with impairment of ocular abduction. Its clinical spectrum is variable including hypoplasia of the pons and cerebellum, facial and abducens nerve palsy, and facial and limb malformations. The etiology and pathogenesis of Möbius sequence are still controversial, although an ischemic insult at a critical embryonic period may be responsible for distinct phenotypes. Most cases are sporadic, although teratogenicity and a genetic basis are described as well. We hereby report the first case of Möbius sequence diagnosed early in the second trimester, due to a specific brainstem calcification pattern associated with facial and skeletal malformations. A G3P2 patient was referred for dedicated neurosonographic evaluation of a 16-week single fetus that presented with bilateral clubfoot and abnormal posterior fossa echogenicity in a routine scan. The patient had two healthy children at home and did not report drug or misoprostol abuse. Screening for CMV was negative. Fetal brain assessment demonstrated midline abnormal findings: a hyperechogenic lining of the posterior aspect of the pons, a 3rd ventricle which communicated with a cystic interhemispheric finding, bilateral choroid plexus cysts and a small Blake's pouch cyst. Additional findings were micrognathia, microglossia, bilateral clubfoot, and thin calves. All the findings were consistent with Moebius syndrome and after multidisciplinary counseling the patient requested termination of pregnancy. Post-mortem evaluation confirmed all the sonographic findings especially brainstem gliosis and calcification. Low-set ears, microtia, hypoplastic right hand with syndactyily of the 2-5 proximal phalanges were also demonstrated. The fetal karyotype was normal." @default.
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- W2036705564 date "2014-09-01" @default.
- W2036705564 modified "2023-10-03" @default.
- W2036705564 title "P04.03: Case report: primary Möbius sequence - early prenatal diagnosis and neurosonographic findings of a rare congenital cranial dysinnervation disorder" @default.
- W2036705564 doi "https://doi.org/10.1002/uog.14056" @default.
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