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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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Eating out: Bam-bouzled
From Independent, The (London), 7/4/99 by Hugh Fearnley-Whittingstall

WOULD HEAVY people weigh less if they were phat rather than fat? Is it harder to be tuff than tough? Is it smoother to be ruff than rough? Does day-lite have less calories? Can anyone spell anymore?

On Percy Street a trendy new restaurant has opened called Bam- bou. No doubt people younger and hipper than I will understand why the word bamboo (a lovely word and a decent enough name for an oriental restaurant) is deemed to require a lexical rethink. One wonders if some of Britain's better established temples of gastronomy could boost their success among the younger generation by adopting this simple marketing gimmick. The Oke Room at the Meridien? The Wall-Nutt Tree in Abergavenny? The Gavv- Rosh?

The people behind Bam-bou will no doubt wince to see it being decribed as trendy. Being trendy is so unfashionable these days. But being fashionable is everything. Bam-bou is the latest in a new breed of restaurant which includes such in-crowd magnets as Momo, Mash and the Atlantic Bar & Grill, the principal point of which is to lure in a particular young and moneyed crowd, and keep them guessing as to whether they are actually having as good a time as they think they are. These restaurants are not exactly formulaic, but you can expect them to have at least a few of the following features: stick-thin clipboard- wielding door girls on the outside and a high number of female staff in tight T-shirts on the inside; a selection of chauffeured sports cars or limos parked illegally outside all evening; at least one bar, where you are expected to sit and drink for at least 45 minutes before being seated; cocaine-friendly lavatories (with a tiled shelf at about shoulder height) and menus that are trendy (sorry, fashionable) and far-flung: Mediteroccan; new Asian; Pacific rim; all that stuff. The food sounds better on the menu than it looks on the plate, and looks better on the plate than it tastes in the mouth. As I approached Bam-bou from the street I spotted the chauffeured Maserati parked right outside and wondered just how much Bam-bou would conform to type. It was crowded inside, and the crowd inside were definitely in. The girl inside the door was thin, and had a clipboard, but at least she took me to my table without appearing to assess my fashion sense. Ruth was having a Campari, and I joined her, and started to feel quite sophisticated considering I had, that morning, been in Dorset training chickens to walk up a ladder. Ruth liked the feel of the place and the sound of the menu. "Yes," I said, "but I bet it won't look as good as it sounds, or taste as good as it looks," and generally went on to bring her up to speed with my theory about places like this. Ruth told me not to be so cynical, and reserved the right to suspend cynicism until the food arrived. She had a point. That's the thing about these restaurants. If they give you something really decent to eat, you can feel privileged to be part of a happening scene - the "aren't we all clever to be here" syndrome. And if they fail to deliver, you can just take it out on your neighbours: poor undiscriminating suckers, easily fooled by the superficial trappings of a fashionable scene. So what's it to be, Bam-bou? My starter of soft-shelled crab with pomelo and mizuna salad fell at the first hurdle: the crab had either been frozen, or kept a day longer than it should have been. Not that it was absolutely rank. But the textural pleasure of that chewable carapace beneath a crisp batter is all lost if the flesh of the crab is anything other than absolutely sweet and fresh. The salad was lively enough, but never likely to redeem the fallen crustacean. Ruth is a raw meat fanatic, so the spicy raw beef dressed with aromatic basil, lime and chilli was a must-gobble for her. After several thoughtful chews she had to admit it had little virtue, besides the simple fact of it being raw meat. I tried a bit and had to spit it out. It was cut too thick from an inferior piece of meat, and that was that. Hopeless. After these starters, Bam-bou's kitchen was unlikely to win us over without some pretty spectacular main courses. The coating on the caramelised ginger chicken was competently prepared and pleasant enough, though the meat was wet and bland (ie cheap). Fried marinated squid was tasty and not rubbery, but when mediocrity comes as a relief you know there is a problem. Puddings were ambitious concoctions that turned out to be ill- conceived: Ruth rejected her caramelised banana and coconut pudding as "stodgy and dull". My lychee and ginger brulee was a sub-standard creme brulee further spoiled by the unwise addition of the exotica. Not that the food was horrible: just a case of worst fears confirmed. The best one can say about Bam-bou is that, with some improvements in the kitchen, it may yet succeed in hanging on to its target clientele. WHAT'S ON THE WINE LIST Richard Ehrlich's selection This compact list has been chosen with considerable care about matching food with wine, and I would like it a lot more if the mark- ups were not, on the whole, so greedy. But I assume that Bam-bou, knowing its clientele, also knows it can charge what it likes. The lack of generosity shows most annoyingly in the lower reaches of the list. Cuvee Frederic Emile Riesling, Trimbach, 1992, pounds 42.50 Easily the best bottle on the list, and also the best value at little more than twice the retail price. One of the many great wines from this Alsace giant Concha y Toro Cabernet Sauvignon, 1998, pounds 14 If you wanted red with this type of food, this could be your man. One of the consistently reliable Chilean producers Bourgogne Aligote, Domaine Felix et Fils, 1997, pounds 18 Aligote, Burgundy's "other" white grape, can produce attractive wines with lively acidity. Domaine Felix is a well- regarded producer Bam-bou 1 Percy Street, London, W1, 0171 323 9130. Lunch Mon-Sat noon-3pm, dinner Mon-Fri 6-11.30pm, dinner Sat 6pm-midnight. Three-course dinner pounds 35. Credit cards accepted, except Diners

Copyright 1999 Newspaper Publishing PLC
Provided by ProQuest Information and Learning Company. All rights Reserved.

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