Ipsilateral foot and controlateral hand anomalies in a patient with Poland?Moebius syndrome

Author(s):  
I CETIN ◽  
D AKTAS ◽  
E TUNCBILEK
2005 ◽  
Vol 48 (2) ◽  
pp. 183-187 ◽  
Author(s):  
İbrahim İlker Çetin ◽  
Dilek Aktaş ◽  
Ergül Tunçbilek

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Arturo Carta ◽  
Stefania Favilla ◽  
Giacomo Calzetti ◽  
Maria Cristina Casalini ◽  
Pier Francesco Ferrari ◽  
...  

Abstract Background The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area. Materials and methods Our university hospital is the only national referral center for the diagnosis and treatment of MBS. Participants in this cross-sectional study were patients affected by MBS who had been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for study purposes were made available in the AISMO database, updated to April 2018. Subjects were assigned to geographical macroareas that are conventionally used in surveys and epidemiological investigations by the Italian National Institute of Statistics. The rates and prevalence of MBS cases were calculated on the basis of the last available survey of the Italian population. Each study parameter was then calculated with reference to the whole country and macroarea partition. The sex rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective sex population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or sexes. A p value < 0.05 was considered statistically significant. Results One hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases occurred in Caucasian patients and were sporadic. The median age at diagnosis was 3.6 years, ranging from 0 to 55 years; this range was significantly reduced to 0–5 years (median age at diagnosis: 2.2 years) in patients included after 2007. The calculated prevalence at birth was 0.06 cases per 10,000 live births, with an overall prevalence of 0.27/100,000, without any sex or geographical predominance. Conclusions The prevalence of MBS observed herein, rounded for possible underestimation, was 0.3/100,000 people, without any regional difference in the distribution of cases. Our data confirm the rarity of the disease on a national level.


Hand ◽  
2021 ◽  
pp. 155894472199426
Author(s):  
Jose E. Telich-Tarriba ◽  
David F. Navarro-Barquin ◽  
Karol Verdezoto-Gaibor ◽  
Alexander Cardenas-Mejia

Background: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. Methods: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. Results: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. Conclusion: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.


2019 ◽  
Vol 5 (1) ◽  
pp. 20180029
Author(s):  
Yaotse Elikplim Nordjoe ◽  
Ouidad Azdad ◽  
Mohamed Lahkim ◽  
Laila Jroundi ◽  
Fatima Zahrae Laamrani

Facial nerve aplasia is an extremely rare condition that is usually syndromic, namely, in Moebius syndrome. The occurrence of isolated agenesis of facial nerve is even rarer, with only few cases reported in the literature. We report a case of congenital facial paralysis due to facial nerve aplasia diagnosed on MRI, while no noticeable abnormality was detected on the temporal bone CT.


2013 ◽  
Vol 63 (3) ◽  
pp. 296-300 ◽  
Author(s):  
Cláudia Regina Fernandes ◽  
Washington Aspiculeta Pinto Filho ◽  
Lia Cavalcante Cezar ◽  
Josenília Maria Alves Gomes ◽  
Glauco Kleming Florencio da Cunha

2020 ◽  
Author(s):  
Francesca Saldanha ◽  
Cory M. Resnick ◽  
Carolyn R. Rogers-Vizena

This final article of the two-part craniofacial series continues to provide the embryologic and developmental foundations necessary to understand congenital craniofacial pathology. Clinical characteristics and molecular genetics needed to make an accurate diagnosis and formulate a treatment plan will be detailed for atypical craniofacial clefts, Moebius Syndrome, Fibrous Dysplasia, Progressive Hemifacial Atrophy (Parry-Romberg syndrome) and Neurofibromatosis. Details of the operations applied in treatment of these disorders are discussed in separate Scientific American: Plastic Surgery (SAPS) articles as referenced. This review contains 3 tables, and 10 figures, and 42 references. Keywords: craniofacial, Tessier cleft, atypical facial cleft, Romberg syndrome, Parry-Romberg syndrome, Moebius syndrome, fibrous dysplasia, McCune Albright syndrome, neurofibromatosis


Author(s):  
Vivekanand U. Warkad ◽  
David G. Hunter ◽  
Alexander F. Dagi ◽  
Sarah Mackinnon ◽  
Melanie A. Kazlas ◽  
...  

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