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Mobius syndrome

Mobius syndrome (also spelled Moebius) is an extremely rare neurological disorder. more...

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Clinical features

Mobius syndrome is caused by abnormal development of the cranial nerves. This rare disorder has a number of causes. Most often affected are the cranial nerves VI and VII. Occasionally the cranial nerves V and VIII are affected.

If the cranial nerve VI is affected, the patient suffers from loss of lateral gaze. If cranial nerve VII is affected, the patient suffers from bilateral facial palsy — mask-like expressionless face with mouth constantly held open. If cranial VIII is affected the patient suffers from hearing loss.

Although its rarity often leads to late diagnosis, Infants with this disorder can be identified at birth: by a "mask-like" expression detectable during crying or laughing due to paralysis (palsy) of the sixth and seventh cranial nerves. Other characteristics include:

  • abnormalities in the limbs — their fingers may be webbed, shorter than usual or they may have more than 5 fingers on their hand
  • impaired sucking ability
  • inability to follow objects with the eye—instead the child turns his or her head to follow
  • crossed eyes
  • inability to smile
  • limitation of tongue movement

Later on, the child may develop speech difficulties, crossed eyes, abnormally small eyes, and fluid building up in the lungs, causing bronchopneumonia.

Treatment

There is no specific course of treatment for Mobius syndrome. Treatment is supportive and in accordance with symptoms. Infants may require feeding tubes or special bottles, such as the Haberman Feeder, to maintain sufficient nutrition. Surgery may correct crossed eyes and improve limb and jaw deformities. Physical and speech therapy often improves motor skills and coordination, and leads to better control of speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Nerve and muscle transfers to the corners of the mouth have been performed to provide limited ability to smile.

Pathological picture

The causes of Mobius syndrome are poorly understood. Many cases have no obvious cause. Others may be genetic.

Some cases are associated with reciprocal translocation between chromosomes or maternal illness. Some maternal trauma may result in impaired or interrupted blood flow (Ischemia) or lack of oxygen (Hypoxia) to a developing fetus. The use of drugs and a traumatic pregnancy may also be linked to the development of Mobius syndrome. The use of the drugs Misoprostol or Thalidomide by women during pregnancy has been linked to the development of Mobius syndrome in some cases.

Some researchers have suggested that the underlying problem of this disorder could be congenital hypoplasia or agenesis of the cranial nerve nuclei. Certain symptoms associated with Mobius syndrome may be caused by incomplete development of facial nerves, other cranial nerves, and other parts of the central nervous system.

Read more at Wikipedia.org


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The Human Face. - Review - television program review
From British Medical Journal, 3/10/01 by Nayeem Ali

BBC1, Wednesdays at 9 10 pm, 7 to 28 March

The face serves many important functions, ranging from supporting the airway and the organs of special sense through to forming the most distinctive aspect of our personality. Since society began, facial appearance has been important. Psychologically, the concept of beauty and ugliness can result in a variety of psychiatric conditions, while abnormal development, trauma, cancer, or surgery affecting the face can cause considerable physical and psychological morbidity. Socially, discrimination based on facial appearance occurs in both workplace and classroom. The human face is therefore of great interest--as Cicero said, "everything is in the face."

The Radio Times described The Human Face as the definitive guide to the history of the face. Four 50 minute episodes, which have taken a year to complete, explore identity, beauty, expressions, and fame. Evidence from medicine, surgery, and psychology is presented in the form of case documentaries and comic sketches linked by veteran comedian John Cleese, a coauthor on the series, and actress Elizabeth Hurley.

The first episode, entitled "Face-to-Face" examines facial expression as a method of communication. Two cases illustrate the difficulties that can result either when facial expression is made difficult due to abnormal facial nerve development, as in Mobius's syndrome, or when facial expressions cannot be interpreted, as with Asperger's syndrome. A vignette focuses on an arguing couple on the brink of divorce, who are sent to a research unit to learn how to understand and hence avoid provocative facial expressions. More for dramatic effect than for its relevance is the inclusion of a US study claiming features of facial expression on a single photograph could predict success and happiness for an individual 40 years later.

The second episode, "Here's Looking At You," is an improvement on the first. The concept of facial deformity is introduced using an individual with cherubism, while the US plastic surgery phenomenon is demonstrated by a Mexican woman who undergoes a "Westernisation rhinoplasty" to adopt a more Caucasian appearance, something that many in Britain would consider inappropriate. Failure to consider body dysmorphic disorder at this point was surprising. The episode also discusses the cognitive pathways involved in face recognition and the resulting neuropsychological disorders such as prosopagnosia, the inability to name familiar faces, but the discussion becomes oversimplified.

Although the first episode is rather disjointed, and the sketches with Mr Cleese and Miss Hurley somewhat laboured, the series improves in the second episode. However, much more could have been made of this fascinating and complex subject in this ambitious and expensive production. Most of all, The Human Face highlights the problems encountered when documentary researchers and writers unfamiliar with a subject exclude core scientific material in exchange for that of high journalistic impact. Somewhat surprisingly, this British production also seemed aimed at the US market and gave the impression that expertise did not exist in the United Kingdom. It does raise the question whether marketing of programmes abroad is now of prime importance for the BBC.

The final two episodes were unavailable to us. Entitled "Beauty" and "Fame," they are likely to be popular because of the public appeal of these subjects. In the press John Cleese has described this project as "a total nightmare" For those who miss the nightmare, a book is available for just under 20 [pounds sterling].

Nayeem Ali specialist registrar in oral and maxillofacial surgery, Royal London Hospital

Paul Farrand lecturer in medical psychology, St Bartholomew's and the London School of Medicine and Dentistry

COPYRIGHT 2001 British Medical Association
COPYRIGHT 2001 Gale Group

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