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MOMO syndrome

MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only four cases around the world. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. more...

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Signs and symptoms

Along with the four aspects of the disorder that give it its name, there are also other common symptoms:

  • A downward slant of the forehead
  • Delayed bone maturation
  • Mental retardation

The ocular abnormalities are generally retinal coloboma and nystagmus.

Pathophysiology

Being such a rare disorder, very few studies have been conducted into its causes. Current research suggests that it is linked to a de novo (new) autosomal dominant mutation .

Confirmed cases

Archie Thompson was born in 2002 in Icklesham, England and weighed 8 lb 4 oz (3740 g). By 15 months his weight had increased to 4 stone (56 lb; 25 kg) and by 24 months it was up to 6 stone (84 pounds; 38 kg). The condition placed a large strain on his heart and lungs. The Thompson family were featured in a documentary for Five first shown on 3 October 2004.

Danielli Furton, from São Paulo, Brazil, is one of the oldest surviving sufferers of MOMO syndrome. At age 17 she was featured in the Archie Thompson documentary as his mother travelled to visit her. Furton attended school as normal, though her physical and mental conditions prevented her from progressing as well as the other students.

Two other cases have been diagnosed, one in Italy and a second in Brazil .

Read more at Wikipedia.org


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Food & Drink: Forget Paris! Regional is all the rage
From Independent, The (London), 7/14/01 by Sybil Kapoor

Something strange is stirring in London and it has a whiff of garlic about it. Not since the French Revolution have so many Gallic artisan shops suddenly appeared in London. First came Lionel Poilane's wonderful Parisian bread shop in Belgravia; then there was Comptoir Gascon in Smithfield, choc-a-block with obscure goodies - foie-gras tartine and fougasse with smoked duck and olives - from south-west France; and Truc Vert, a specialist French deli in Mayfair. Most recently Paul, a specialist French baker from Lille, has arrived. Could it be that France is making a bid to re-establish its culinary position as number one in Britain again?

"People are going off the old sun-dried tomato syndrome and returning to specialist French ingredients," says Dan Mortimer, shareholder and director of Truc Vert. Wander into Le Bon Marche store in Paris and, according to Mr Mortimer, you will find all manner of small regional producers. "It's my biggest source of inspiration," he enthuses, "you just have to walk around the shop and you can source some wonderful products."

As a result of his expeditions, in Truc Vert you can buy delicate little Pyrenees honey cakes, fragrant Alain Milliat fruit nectars such as bilberry or quince, and ultra-fruity red vine peach or apricot La Trinquelinette jams.

It's not just happening in shops. Chefs, too, are expressing a renewed interest in French cooking. "I'm not a Francophile," insists Samuel Clark, joint chef-owner of Moro in London. "In fact, I think 80 per cent of French food can be horrible, and 20 per cent delicious." Despite such misgivings, he is in the process of setting up Maquis, a French restaurant in Hammersmith Grove, west London, which is due to open this autumn.

"The idea for the restaurant was in part a reaction to the pretentious, over-precious attitude that some French restaurants have here," he says, while refraining from naming any names, but revealing a preference for earthy cooking and less reverential surroundings. "There is a new generation emerging - like The Admiralty and La Trompette - which are going in the right direction, in that they are not overly Frenchified, but I wanted to go even further and look at French cooking afresh."

Clark decided to approach French food by reading, from cover to cover, the Larousse Gastronomique (pounds 60, Hamlyn), the encyclopaedia of classic cooking that ranges through the nation's ingredients, techniques, sauces and dishes, from apples Bonne Femme to potage Xavier. Coincidentally, it has finally been revised and updated for the British market after 17 years of neglect, and is due out mid-September. Clark's been struggling with the irritatingly dated, but ultimately rewarding, previous edition. "I'm ploughing through all 2,000 pages, so that I don't miss all the little titbits that you don't get in ordinary cookbooks," he confides.

Although understandably guarded about exactly the direction his new project will take, he admits: "I want to go back to basics and reintroduce simple dishes with definitive fresh flavours such as tarragon or chervil. For instance, a light potato, chervil and lemon soup; or chicken and chanterelles with a really good veloute sauce. French restaurant-cooking uses huge amounts of cream, lots of foie gras, butter and `jus' [reduced stocks], and although I love a lot of those dishes, I wanted to bring out different aspects of their food."

Consequently, Clark plans to pick-and- mix dishes from different regions to construct a well-balanced, contemporary menu that is not too dependent on ingredients - olive oil, tomatoes and basil, for example - from one particular area. Ollie Rowe, Maquis's head chef and therefore about to be ex-Moro sous-chef, is already exploring the byways of France looking for new ideas. Alsace is one of the regions that has aroused his and Clark's curiosity.

How does Sam Clark, an English chef renowned for cooking Spanish and Arab Mediterranean food, feel about taking on the whole of French cuisine and reinterpreting it? "Not being French is a very liberating factor in cooking French food," he believes.

Pascal Aussignac, the French chef and part-owner of Club Gascon in London, also approaches the food of his native France in a highly individual manner. "Before I came to London, I had to cook in a conformist way," he says. "I couldn't really serve the food of my native Gascony either in St-Tropez or Paris." With escalating costs in France, he and his business partner, Vincent Labeyrie, with help from Momo, a French-Moroccan restaurateur based here, decided to try his luck in London. As soon as it opened, their small restaurant serving food from the South-west of France with a modern twist won plaudits.

"I was fed up with paying pounds 25 in a restaurant for a main course I might not enjoy," Aussignac says. "So we decided to create a menu that was more like French tapas, where you can compose your meal with several smaller, cheaper dishes."

Perhaps because of the physical distance between himself and his home, Pascal Aussignac creates superb dishes that are as much inspired by the natural beauty of south-west France as the ingredients themselves. Zander, for example, are smoked over pine needles, and the freshwater fish are then presented with a tomato confit on the river stones over which they once leapt. Rabbit legs are wrapped in aromatic cedarwood, roasted and accompanied by a prune chutney.

Relatively low taxation in Britain partly accounts for the sudden influx of French businesses in the last two years. Francis Holder, head of the family that owns the Paul chain, explains that the French government takes nearly half an employee's earnings, compared with a third here. But he's mildly disparaging about us as potential customers, viewing Britain as more like the US than Europe in its gastronomic taste, and questioning whether we are ready for lovely French bread and fruit-laden tarts - especially outside London.

Others are more confident that the British are able to enjoy la cuisine francaise. Publishers are showing more interest in French cookery books than they have for the past decade. Cassell has just issued the first English translation of the revered La Cuisine de Joel Robuchon - A Seasonal Cookbook (pounds 16.99, Cassell Paperbacks). Simple French Cooking, recipes from my mother's kitchen by Georges Blanc and Coco Fobard (pounds 20, Cassell) follows it in August.

Contrary to recent appearances, French food is far from being a spent force in Britain's homes and restaurants. Prepare for some revolutionary developments in cuisine over here.

Le Truc Vert, 41 North Audley Street, London W1 (020-7491 9988)

Club Gascon, 57 West Smithfield, London EC1 (020-7796 0600)

Comptoir Gascon, 63 Charterhouse Street, London EC1 (020-7608 0851)

Copyright 2001 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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