Rubinstein-Taybi syndrom

-en oversigt med inspiration fra
1) den 3. verdenskongres 2011
2) den videnskabelige litteratur

Stense Farholt
Overlæge, ph.d.
Center for Sjældne Sygdomme
Aarhus Universitetshospital Skejby
C enter for Sjældne Sygdomme




CSS personale

NURSES
Rikke VestergaardHelle VinterLone Fredensborg

SECRETARY
Gitte Rosenfeldt Pedersen
Anita Bindner Mortensen


DOCTORS
Stense Farholt
Annette Haagerup
John R. Østergaard
Charlotte Olesen

countries

Location NH Conference Centre LeeuwenhorstLangelaan 32211 XT NoordwijkerhoutThe NetherlandsPhone +31 (0) 252 378888nhleeuwenhorst@nh-hotels.comwww.nh-hotels.com/nh/en/hotels/the-netherlands/noordwijkerhout.html TravelCar: See hotel website for directions. Ample parking Public transport: There will be a shuttle bus from Leiden Central Station to Leeuwenhorst Conference Centre. Leiden is easily accessible by rail and is a short distance from Schiphol Airport. Activities in the region There are many tourist attractions within easy reach: Amsterdam (40 km), Leiden (17 km), Den Haag (40 km), flower fields (10 km), beach (1 km), museums, amusement parks etc.

On the occasion of the 25-year anniversary of the Stichting Rubinstein-Taybi Syndroom

Third RTS World Conference May 5 -7 2011NoordwijkerhoutThe Netherlands
Information, lectures, workshops, films, plus a chance to meet children and parentsfrom many countries Location NH

Provisional Program

Thursday May 5

Registration from 3.00pm: meet old acquaintances, make new friends, enjoying nibbles, drinks, and barrel organ music. The RTS-movie will be running all the time, and there will be many stands and play facilities.

At the end of the afternoon there will be a buffet meal offered to all. In the evening there will be further chance to socialise and relax. The bar will be open.

Friday May 6 09.45am-4.30pm: Symposium dedicated to RTS for parents and others. You will enjoy many knowledgable speakers discussing topics such as: health watch programs, growth, teeth, scar tissue formation, thumbs, eyes, constipation, nutrition, cancer, anaesthesia, genetics, non-verbal communication, behavior, autism, adults with RTS, brothers and sisters, speech therapy, physical therapy, and scientific investigations.

For children with and without RTS a separate program is running with many activities and workshops. Professional childcare staff are on-hand to accompany the childen.

There will be an information market all day long

.

In the evening there will be a dinner and a singing contest for the children.

Saturday May 7 Many of the speakers from Friday will have clinics, which you can attend if you have questions regarding your child. There will be clinics for scoliosis, thumb corrections, eye and visual problems, dental inspections, behavior, genetics, and general problems. 1.00pm, lunch and end of the meeting.

Provisonal application

We would be grateful if you would indicate your interest using the website

www.rtsyndroom.nl as soon as possible, so that we can estimate the number of people attending. Final registration for the conference will open on November 1, 2010. Those who have made a provisional application will receive an invitation by email to register.

Fees

The fees of the conference are not yet finalised. The total package will include the buffet on Thursday, lectures, workshops, coffee/tea, lunch and dinner on the Friday, lunch and consultations on the Saturday. Any additional drinks will not be included in the price.

Paramedics, physicians, and behavioral specialists will be able tp register separately for the symposium. Accreditation for the meeting for paramedics and physicians is pending.

There are rooms available in the Leeuwenhorst Conference Center for reduced rate. Prices vary from €80 to €109 per room per night. There are several other places to stay in the area if preferred.

Further enquiries

www.rtsyndroom.nl

RTScongres2011@rtsyndroom.nl

Jack H. Rubinstein, MD, Concinnati and Hooshang Taybi, MD

            1963
Broad Thumps and Toes 
and 
Facial Abnormalities
 

A possible mental Retardation Syndrome


Jack H. Rubinstein, MD, Concinnati and
Hooshang Taybi, MD

Velkommen til vores hjemmeside

Forskning
•2009 –2011
–43 arbejder
–Genetik (12)
–Patogenese (2)
–Klinik (23)
•Adfærd & psyk (2)
•Case reports (17)
–Behandling (2)
•Tænder
•Tommelfinger
–16p13.3 duplikation (3)
–Dyremodeller (1)
•Vanskeligheder
–Lav prevalens, altså få patienter

Definition af syndrom

•Kommer af græsk

syndrom? = sammenløb

–syn: (sammen) med

–drom: af dramein løbe

•Symptomkompleks

–en samling af genkendelige træk, symptomer og/eller misdannelser, som karakteriserer en given sygdom

–ofte vil der være tale om sjældne og komplekse sygdomme

RTS

•Medfødt sygdom

•Varig sygdom

•Det genkendelige

–Ansigtstræk

–Brede, ofte vinklede tommelfingre

–Brede storetæer

–Lav vækst

–Moderat til svær udviklingshæmning

Graviditet og fødsel

Table I . Birth History
                                                           average                  Range
Maternal age ( years )                             28,5                        ( 17 - 38 ) 
Paternal age (Years )                               30,8                       ( 18 - 42 )
gestational lenght ( weeks )                      39,8                       ( 32 - 44 )
Polyhymdranios                                     16/41 ( 38 % )           
Birth weight ( kg)                                     3,09                      ( 2,05 - 4,28 )
Birth lenght ( cm )                                   49,3                       ( 43.9 - 53,3 )
Birth Head circumference ( cm )               33,4                       ( 29 - 38 )

Vækst - højde


Normal fødselsvægt Væksthæmning

• M 153,1 cm

• K 146,7 cm

Hovedomfang

• M 54,7 cm

• K 52,4 cm


Spisevanskeligheder

•Hyppige hos det spæde barn, 80%

–Sonde

•Senere øget fødeindtag

•Fejlsynkning

•Refluks



 

Kost og motion

 

Øjne

•Næsten alle har øjensymptomer

–Mangeartede øjenfund

•Øjenomgivelser

–Buede øjenbryn

–Nedadskrå øjenspalter

–Stor øjenafstand

–Epichantus

–Lange øjenvipper

–Ptose

–Skelen

Van Genderen