Möbius sequence—a Swedish multidiscipline study

Strömland, Kerstin; Sjögreen, Lotta; Miller, Marilyn T.; Gillberg, Christopher; Wentz, Elisabet; Johansson, Maria; Nylén, O; Danielsson, Anna; Jacobsson, Catharina; Andersson, Jessica; Fernell, Elisabeth

doi:10.1053/ejpn.2001.0540

Cited by 105 publications

(107 citation statements)

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“…A history of bleedings early in pregnancy has been observed in Möbius sequence [Strömland et al, 2002], especially when uterus-contracting substances such as misoprostol were used for attempted abortions [Gonzalez et al, 1993]. In the present study, bleedings, most of them in early pregnancy, were noted.…”

Section: Etiologysupporting

confidence: 49%

CHARGE association in Sweden: Malformations and functional deficits

Strömland

Sjögreen

Johansson

et al. 2005

American J of Med Genetics Pt A

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CHARGE association (CA) consists of a non‐random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro‐psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty‐one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. © 2005 Wiley‐Liss, Inc.

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Section: Etiologysupporting

confidence: 49%

CHARGE association in Sweden: Malformations and functional deficits

Strömland

Sjögreen

Johansson

et al. 2005

American J of Med Genetics Pt A

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“…4 The minimum diagnostic finding, however, is the congenital absence of the seventh (facial) cranial nerve. This can present in the neonatal period with incomplete eye lid closure (secondary to paralysis of the orbicularis oculi muscle) and difficulty in feeding.…”

Section: Discussionmentioning

confidence: 99%

Obstetrical and Pediatric Anesthesia Anesthetic management of children with Moebius sequence

Ames

Shichor

Speakman

et al. 2005

Can J Anesth/J Can Anesth

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Background: Moebius sequence is a rare congenital absence of the sixth and seventh cranial nerves, although there may be additional congenital cranial neuropathies. Developmental delay, cardiac and musculoskeletal abnormalities may also coexist. Oro-facial manifestations include bilateral facial nerve palsy resulting in a mask like facies, drooling, incomplete eye closure, and strabismus secondary to the extra-ocular muscle imbalance. This condition has multiple implications for anesthetic care. Methods:We reviewed 111 anesthesia records of 46 patients with Moebius sequence for anesthesia technique and related complications.Results: Facial nerve palsy was universally present and bilateral in 44 (93.6%) patients. Thirty-two (68%) had concomitant sixth nerve palsy. Oro-facial and limb abnormalities were present in 16 (35%) and 18 (39%) of patients respectively. Endotracheal intubation, when attempted, was easy in 76 of 106 cases. Tracheal intubation was consistently difficult in seven patients and intubation failure occurred in a single patient only. Statistically significant factors associated with difficult tracheal intubation included structural abnormalities of the mandible and palate and abnormalities of four cranial nerves (IX, X, XI, XII). Conclusion:We confirm that tracheal intubation may be difficult in patients with Moebius sequence. We identify disease features that might predict a difficult tracheal intubation and thus allow the anesthesiologist an opportunity to plan accordingly.

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“…O mecanismo etiopatogênico mais aceito para explicar a sequência de Möbius é a hipótese de Bavinck e Weaver, que se baseia na ocorrência de uma insuficiência vascular no território das artérias subclávias, basilar, vertebral e torácica interna durante a morfogênese, no primeiro trimestre, possivelmente em torno da quarta e oitava semana de gestação (1)(2) . Isto resultaria em uma alteração isquêmica do tronco cerebral, especialmente ao redor dos núcleos dos VI e VII nervos cranianos, provocando grande variedade de defeitos de derivados mesenquimais e ectodérmicos, a depender da localização específica da insuficiência vascular (2) .…”

Section: Resumo Introduçãounclassified

“…Existem alguns casos familiares e outros com mutações cariotípicas (5) . A maioria, entretanto, é de ocorrência esporádica (1,(5)(6) . Vários fatores ambientais têm sido implicados na gênese da sequência de Möbius, incluindo infecções, hipertermia, vasculite, coleta de vilosidade coriônica, trauma abdominal, falha na tentativa de aborto, uso de drogas tais como: misoprostol; talidomida; álcool ou cocaína (2,(4)(5) .…”

Section: Resumo Introduçãounclassified

“…O presente estudo objetiva investigar a resposta humoral para a infecção pelo vírus dengue em pacientes com a sequência de Möbius e em suas mães, buscando avaliar possí-vel relação entre a ocorrência desta infecção no período gestacional e o nascimento de pacientes com a sequência de Möbius. Foram considerados para o diagnóstico de sequência de Möbius os seguintes critérios: presença de enfraquecimento congênito uni ou bilateral dos nervos abducente e facial, como achados isolados, ou quando associados ao acometimento de outros nervos cranianos, anomalias de extremidades, malformações craniofaciais, malformações musculoesqueléticas, retardo do desenvolvimento neuropsicomotor e autismo (1,4) . Excluíram-se 10 pacientes e genitoras que não concordaram em participar do estudo ou que não compareceram para responder ao questionário.…”

Section: Resumo Introduçãounclassified

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