The

Update from Margot Orthodontic and Dental IssuesInside ...

Open Door Forum:Emily Ross Story

Page 5Page 4 Page 6Page 3

Greetings from Norway! We are theBrøndbo Moss family, Ingunn, Frode,Kristine 4 ½ years old and Andrea 3 ½years old. Kristine was born in April2003 at 37 weeks. My pregnancy wasquite difficult as I had pre-term labor atseven months and had to lie down for 5weeks. My labor went very fast, and wewere so happy the first hours after shewas born. Everything seemed to be finewith our little daughter, and we namedher Kristine after her great grandmother.

Kristine seemed to be very healthy whenshe was born, but she started to get limpafter a few hours. She was also sufferingfrom hypoglycemia so we were taken tothe NICU the morning after she wasborn.

Once in the NICU it was discovered thatshe had an arched palate/isolated cleftpalate and a small heart failure (a VSD).She also had special facial features –eyes, mouth, eyebrows and ears. Becauseof the cleft palate and because she wasvery limp it was very difficult to feed her.After a week the doctors told us that sheprobably had the diagnosis Down Syn-drome. Tests were taken and sent for achromosome analysis.

The days went by and we had a very hardtime. We started to read a lot about DownSyndrome and after a while we thoughtthat everything was going to be fine. Wereceived the test results ten days later.

The answer came as a new shock – thetest was negative - they had found nor-mal chromosomes in her genome. Wedecided to leave the hospital that day.Kristine was three weeks old the day wewent home.

Kristine was not gaining enough weightand she had aches in her stomach afterevery meal. We had to feed her throughthe feeding tube every third hour day andnight, and control her weight twice aweek at the local child health center.

The public health nurse did a great jobfollowing us. We discussed our concernswith her almost every week but we didnot get answers to our questions.

The first turning point came after six

Kristine Moss - 4 ½ years old

Greetings from Norway! By Ingunn Brøndbo

weeks. Because Kristine was born withthe cleft palate we had an appointmentat a hospital in Oslo. A surgeon wantedto see the cleft palate in order to be ableto plan the operation. He told us that hewanted to direct us to a genetics doctorat the University hospital in Oslo. Wefelt an enormous relieve about that de-cision.

The next months went by. Kristinestared to grow and to gain weight butshe wasn’t hitting the milestones, andmost of all she didn’t seem to have thestrength in her body that most babiesdo. We started to see a physiotherapistonce a week at the local hospital. Thetherapy helped but her joints were veryloose and her body was very limp, soevery step forward needed a lot of ef-fort.

She attended kindergarten a few hoursa week when she was ten months old,and stared full time when I had to goback to work when she turned one. Shewas ill all the time the first year inkindergarten. She was also very tactiledefensive at this age – she dislikedbaths, hair brushing and cuddling. Shealso disliked new food and new situa-tions.

The cleft palate was closed when shewas one year and two months old. Theyalso put tubes in her ears. The operationwas successful and the palate is nowvery high but closed.

The diagnosis Kabuki syndrome wasfirst mentioned in a letter we received

See: Greetings, page 2

Kabuki JournalSpring 2008

Open Door Forum:Katie Weinland story

Medical JournalArticle Update

Page 9

KSN Founders Dean & Margot Schmiedge 8060 Struthers Crescent Regina, Saskatchewan S4Y 1J3

CANADA Phone: (306) 543-8715 Email: margot@kabukisyndrome.com Web: www.kabukisyndrome.com

Newsletter Editor Heather M. Johnson 2503 Winding Oak Drive Charlotte, North Carolina 28270

USA Phone: (704) 543-9585 Email: hdmj@aol.com

Kabuki Syndrome of Japan Toshinobu Ozeki 255-8 Higashikitano Inuyama, Aichi 484-0868

JAPAN Phone: 81-568-67-7860 Email: azusa8-5@fb3.so-net.ne.jp Web:www003.upp.so-net.ne.jp/kabuki_j/

Assn. Syndrome de Kabuki (ASK) Catherine Mus 14 rue Emile Zola 59135 Bellaing

FRANCE Email: asyndkabuki@neuf.fr Web: http://asyndkabuki.neuf.fr/

Netwerk Kabuki Syndroom (European KSN) Fam. Vergouwen Beukenlaan 24 6241 Al Bunde

THE NETHERLANDS Phone: 043-3650207 Fax: +32 43 3650207 Email: martijn95@tip.nl Web: www.home.planet.nl/kabuki/

Supporting Aussie Kids with Kabuki Syndrome (SAKKS) Peta Colton 3 Harley Pl. Vista, South Australia 5091 AUSTRALIA Phone: 08 82640209 Email: petal@sakks.org Web: http://www.sakks.org/

Greetings...Continued from page 1

from our geneticist doctor New Years Eve 2004. It was only mentioned in theletter but I became very curious and started to search on the Internet. I found aphoto of a girl with Kabuki syndrome, and from that moment I just knew thatKristine had the same syndrome. It was a very special moment. I sent an e-mailto the genetics doctor the same day and showed her the photo. She agreed withus but in order to be quite sure she took our case to a meeting with severalgenetics doctors in London Dysmorphology Club. They all agreed with her.Norway is a very small country, and only about six to eight people have thisdiagnosis today.

Kristine walked her first steps a couple of months before she turned three. It wasa major, positive event for us! Kristine is turning five years in April. She ishealthy, happy and full of life. She is very close to her little sister Andrea. Theyare almost like twins. She thoroughly enjoys kindergarten. She is integraded inour local kindergarten but she is followed by a special teacher 8 hours a weekand is seen by a speech therapist and a physiotherapist regularly. She continuesto thrive and she is making progresses in all areas of development. She has amild intellectually disability and loves routines. She has very poor coordinationand a poor sight. She has problems with constipation and dribbling from hermouth. She speaks and tells stories in full sentences but can be a little hard tounderstand if you don’t know her well. She loves to play with her little sister,her friends and her dolls.

The first years were the rockiest and we did have many bad days back then. Thesituation is now turned and we feel almost like an ordinary family. We are veryproud of our little girl and we are very happy that she came in to our life.

Thank you so much for the great job this support group is doing, and thank youfor allowing us to share our story with you.

Kristine , 4 ½ years oldand Andrea (left)3 ½ years old

Kristine ~

infant

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Dear Members,

In November of last year we requested assistance, via themailing list, to obtain two desktop publishing software pack-ages. Heather and I were using an introductory version and aswe became familiar with the program, it became increasinglyevident that we needed to purchase the fully functional ver-sion. We would like to extend our sincere thanks to DonnaBobo and Nancy Moses for their donations that enabled thepurchase of this software!

November also brought the addition of an online paymentoption for KSN. This was no small feat as I had virtually noexperience with online payment systems! KSN now offerstwo new options:

1-New families can choose to pay for membership using PayPal via a link I include in my introductory email2-Families can send donations using PayPal via KSN’s website: http://www.kabukisyndrome.com/bulletin.html

The convenience of this service for families, especially ouroverseas families, has been wonderful. Kabuki SyndromeNetwork could not exist solely on membership fees and we

would especially like to thank the following families fordonations that exceeded $50:

Neil & Stacey Hamel Nancy Moses Sonia Voldseth Alesa Geraghty Kathleen Finckle Sandy Teeple Dean & Margot Schmiedge Thomal Bulwan June and David Voldseth Elsie Schmiedge Mark & Catherine Smith Colleen Lowery Eileen & Patrick Brassil

In my search for newly published articles on Kabuki, I stum-bled across a recent study in the European Journal - 8p23.1duplication syndrome; a novel genomic condition with unex-pected complexity revealed by array CGH. It naturallyinterested me since it involves a similar area on the 8th chro-mosome as the study done by Dr. Milunsky a few years ago.In my contacts with Dr. Barber (an author of the study in theEuropean Journal) and Dr. Milunsky, it is true that the abovenewly discovered condition and a few other syndromes allinvolve a similar overlapping area on the upper arm of the 8th

chromosome. Kabuki is no longer thought to be one of them.As you will recall, Dr. Milunsky’s findings were not beingduplicated by other groups (Dr. Barber’s being one of thosegroups). Coincidentally, Dr. Milunsky has very recentlyupdated his earlier findings with a ‘Letter to the Editor’ enti-tled, A re-examination of the chromosome 8p22-8p23.1 regionin Kabuki Syndrome, in which, basically, they agree that theredoes not appear to be a duplication on 8p in Kabuki. Inre-examining the samples, they continue to find some differ-ences on the 8th chromosome but have discovered that theresults were originally misinterpreted. Hence, Dr. Milunskyand others continue to look for the etiology of Kabuki. Wewould like to thank families for their willingness to participatein these (ongoing) studies and encourage those who have notyet done so to contact both Dr. Ming and Dr. Milunsky.

Please see website for contact details:http://www.kabukisyndrome.com/bulletin.html

Best wishes to all families, Margot

Margot Schmiedge Dean Schmiedge

Founders ~ Kabuki Syndrome Network

- 3 -Update from Margot:

As mentioned earlier via the KSNmailing list, the Family Directory is get-ting an updated look using KSN's newdesktop publishing software. The infor-mation within will remain the same, how-ever it now will feature a photo of yourchild or family (for those who sent one)and will, generally, be more visually ap-pealing. It also has been organized tomake finding others close to you mucheasier to do.

As a result of the increased number offamilies within the Family Directory andthe updated format, it will now only besent via email as a PDF document. If youhave previously been receiving the direc-tory via snail mail, you will now need tosend me an email address I can use. If your email address has changed inthe last year, is no longer working, or ifyou have never submitted an email ad-dress there will be no way for KSN to

deliver the directory to you -- so be sureyou get a current email address to me! To ensure privacy, the directory willnot be uploaded to the website, and willbe available only to families who arelisted within the directory.

Thanks, Margot

KSN Family Directory ~ New & Improved Format

My Kabuki Syndrome Journal by Katie Weinland

Even though Kabuki has it’s up and downs, I never want to getrid of it. It’s my life and I love it.

All of my life, my Mom and Dad have known that there wassomething different about me. But until I was about age 11,they did not know what it might be. We finally went to UCLAMedical Center in Los Angeles California where the doctorsdid some tests and diagnosed me withKabuki Syndrome.

Before this, my doctors weren’t sureabout the diagnosis. They thought itmight be things called Pradder WilleysSyndrome, Downs Syndrome, BardetBiedel Syndrome, or some others that Ican’t even remember how to say them.Never mind what they actually were.Even the most famous geneticists inNew Mexico, doctors Acee and Claracu-sio couldn’t figure it out. They werehoping it was a new thing that they couldname after themselves!

Kabuki syndrome is very hard to diag-nose because it masks itself like so manyother syndromes. But almost all theKabuki patients have the most beautifulalmond shaped eyes and they also stillhave the fetal pads on the tips of theirfingers. Most of us have very weak ligaments and joints,which I know for a fact leads to lots of pain. Usually, the hipsand or knee caps pop out of place and are dislocated. Then wehave to go to the hospital and get them put back in place andbe in a wheel chair until it get healed. Then it happens againtwo moths later.

Finally, I got some surgery at the Carrey Tingley HospitalDoctor Sherman who wore the coolest bow ties and alwayshad lollipops in his pocket. He stapled the bones under myknee caps to make them grow the right way. Then he took outthe staples and my knees have done just fine ever since.Thank heavens that was the end of that struggle.

Now I can walk pretty normally but I have to go slowly andcarefully still. I am now in the Special Olympics track teamrunning/walking the 50 meter and 100 meter race. I also

walked in the YMCA 5 k fun run and the Suicide preventionservice 2 k fund raiser. Those were hard, but I had a recordtime of 50 minutes had 7 seconds in the 5 k race.

I have had to have Gammaglobulin once a month since I wasthirteen because the doctors found out through blood tests thatI had something called ITP. It means my spleen eats up myplatelets and treats them like they are the bad germs. This isscary because if I got a bad cut I could bleed to death. At firstI got stuck with I.V. needles every week to check my bloodand give the gammaglobulin. After they realized it was going

to be on going, they surgically put aprota-cath under my skin by my collarbone. This made it a whole lot easier toget my treatments and do blood tests.

After three long years with ITP and get-ting treatments very month or more, Uni-versity of New Mexico doctor McKinnelsuggested that we go tothe Seattle Children’s Hospital. They putme on a whole lot of Prednizone and itworked. Three months , later my ITPwas gone and hasn’t come back!

I still have to get gammaglobulin once amonth because I also have a conditioncalled CVID. That means “CommonVariable Immune Defisciency” and that Icould die from severe infections. So weare very careful about exposure to

germs. So far we don’t know about a curefor this. But I hope we find one so I won’t

be stuck with this for the rest of my life.

I am pretty lucky though because other Kabuki kids have itworse than I do. Some kabuki kids have severe facial defor-mities like cleft palette, which I am lucky to only have a minorbit. Lots of us are missing front incisor teeth. It’s made it veryhard to chew foods - especially meat. But since I’ve hadbraces, I’ve discovered the joys of filet mignon, and lobsterand crab and prime rib. So that makes me an expensive date!

I also am getting two tooth implants soon, so I will have someincisors after all. They are getting put in by computer guidedrobot surgery!

Even though I have Kabuki, I have goals and dreams just likeeveryone else. One of my biggest dreams is to sing on

See: Katie, page5

Katie Weinland, age 17

- 4 -

Broadway but I can’t really dance verywell. Or I also would like to be anactress on the big screen in the movies.My fall back plan is to be a teacher ormaybe do research science. Maybe I’llget the chance to study Kabuki andhelp others just like me.

I know about Human Genome Project

and I think I might like to help out inthis area because it holds a lot the keysto what Kabuki is and why it hap-pens. I also know that some of ourscientists right here in Los Alamoscontributed greatly to the HumanGenome Project and I think I might beable to help out in this area because itholds a lot the keys to what Kabuki is

and why it happens. Dr. Devon is thefather of one of my classmates fromhigh school and I hope to interviewhim someday to learn more aboutgenetics. There are a lot of questionsthat need answering about Kabukiand I hope I can help.

Katie...Continued from page 4

Hi! My name is Emily and I am 18 years old.I belong to a group called Special Olympics,and have been a member for about 5 yearsnow. I am involved in a variety of sports, suchas Athletics (in the summer) and Cross Coun-try Skiing and Snowshoeing (in the winter)

We have practices and competitions at theprovincial, national and international levels.Last September, because I qualified in Athlet-ics for the 50 metre race and standing longjump, I got to go to the World Games in China.We were there for 2 and a half weeks. Duringthis time, we had a few days to acclimatizeand to get used to the new food and culture.We also got to look at some stores in China.Their Wal Mart is 4 stories tall!

During the competition at the Games, it wasvery exciting to see all the different culturescompete. I got 5th place for the 50 metre dashand a 3rd place medal for the standing longjump! I was so excited! It was a great trip!

In February, 2008, I am going to go to QuebecCity, in Canada, for the National WinterGames. I am cross country skiing with TeamAlberta. It has been such an exciting year forme! I encourage anyone with Kabuki syn-drome to join Special Olympics. You will makea whole new group of friends and have lots offun at the same time!

By Emily Ross

Emily attendsawards ceremonyduring World Gamesin China

- 5 -

Oral health is important for allchildren but is especially im-portant for children with spe-cial medical and/ordevelopmental challanges.Children with Kabuki Syn-drome have a complex arrayof special features and func-tional challenges. Good oralhealth and proper dental fol-low up is an important elementin the overall care pathway forthese children. This paper out-lines important issues in dental

development, oral health care, facial growth and devel-opment and orthodontic care.

Facial Growth Patterns

Children with Kabuki Syndrome have characteristic fa-cial features that have been well documented and de-scribed in the literature and this paper will not describethese in detail. As we well know, there is classicallysome flatness in the cheek areas below the eyes and lackof forward projection of the cheek bones. The lowerportion of the face is often disproportionately long com-pared to typically developing children. This pattern offacial features is rooted in the growth patterns of the jawstructures and the neuromuscular environment. In thispaper we will focus on the underlying facial developmentwhich has implications for facial pattern, jaw alignment,dental development, and oral health.

Overall jaw growth and bite relationships are classifiedinto three patterns (Class I, II and III). These patternsresult from the relative growth of the two jaws and can

be seen in Figure 1. If the upper and lower jaws are inbalance this is called a Class I pattern. The bite will beideal in the molars and the front teeth with the lower frontteeth biting slightly behind the upper front teeth. Thefacial profile will be ideal as well. A Class II patternoccurs when the lower jaw is shorter than the upperwhich alters the bite on the molars and front teeth. Inthese children the lower front teeth fit well behind theupper front teeth and commonly these children are saidto have an “overbite”. These children have a profilewhere the chin seems receded and/or the upper frontteeth appear to protrude. A Class III pattern occurs wheneither the upper jaw is too short or the lower jaw is toolong or both. In children with a Class III pattern thelower front teeth are in front of the upper front teeth andthis is called a crossbite. The facial profile will seem likethe chin is protrusive. Jay Leno is a good example of aperson with a Class III jaw growth pattern.

In the Caucasian population Class III patterns are seenin between 1 and 3% of the population. For childrenwith Kabuki Syndrome this is much more common andis the most frequent jaw development pattern. In manychildren with Kabuki Syndrome this is due to underde-velopment of the upper jaw relative to the lower. Chil-dren who have this pattern of jaw growth have lessprojection in the cheek bone area and the face may ap-pear flatter than ideal in this area. Due to the jawgrowth pattern it is also more common to see a crossbiteof the front teeth with the lower front teeth in front ofthe upper. Figures 2 and 3 show a lateral jaw x rayand tracing of a 12 year old male with Kabuki Syn-drome. His Class III pattern shows the upper jaw be-hind the lower and lower front

Important Dental and Orthodontic Issues for Children with Kabuki Syndrome

Bryan J. Williams DDS, MSD, MEd

Figure 1: Common Patterns of Facial and Jaw Development

Bryan J. Williams DDS, MSD, MEdPediatric Dentistry and

Orthodontics - Bellevue WA

Figure 2: Lateral Jaw Xray of 12 Year Old Male with Kabuki Syndrome

See: Dental, page 7

- 6 -

teeth which are ahead of the upper front teeth. Childrenwith Kabuki Syndrome also often have a tendency to along lower facial proportion. This relates to a lower jawwhich is canted downwards more steeply than ideal. Thefeeling is that this relates to the neuromuscular patternwhere the jaw muscles are more lax allowing the lowerjaw to develop at a steeper angle.

Figure 4 shows a jaw x ray tracing of a 7 year old girlwith Kabuki Syndrome. The lower jaw angle is steepwhen compared to a tracing of a typically developingchild (Figure 5).

The tendencies to have length and angular imbalances injaw development have significant implications for facialgrowth, the bite and for potential orthodontic treatment.From the parents perspective it can cause a disconcertingchange in the bite as the child matures. Often when thebaby teeth are present the bite may look fine to the parentbut as the jaw development progresses the bite maybecome more noticeably irregular. This usually be-comes more obvious when the permanent teeth are be-ginning to erupt. Often this is when the child will betaken for a consultation with an orthodontist. For chil-dren with Kabuki syndrome, it is especially importantthat the orthodontist do a thorough evaluation of theunderlying jaw development pattern in advance of initi-ating any orthodontic treatment. The biting pattern of theteeth is most often a result of the growth pattern of thejaws and not just malposition of the teeth. Treatmentoptions must be carefully assessed in order to optimizeoutcome. Given the pattern of the neuromuscular envi-ronment, children with Kabuki Syndrome may not havethe same options for orthodontic treatment as typicallydeveloping children where sometimes during growthmuscle forces can be harnessed to improve the bite andjaw positions. In children with Kabuki Syndrome withsignificant jaw length abnormality or vertical jaw imbal-ance ideal correction may necessitate integrating jawrepositioning surgery into the orthodontic managementplan. Obviously careful evaluation of the child’s overallmedical and developmental status is important prior toconsidering significant treatment like jaw repositioningsurgery.

Other Important Oral Findings

Once there is an understanding of the overall jaw devel-opment pattern there are other important oral and dentaldevelopment issues.

First it is important to realize that over 50% of childrenwith Kabuki Syndrome have some significant cardiacanomaly. For certain dental procedures and with certaintypes of cardiac issues it will be necessary to provideprophylactic antibiotic coverage in advance of manydental appointments. The American Heart Associationhas recently revised the guidelines for antibiotic premed-ication for children with cardiac irregularities (April2007). It is important that your dentist be familiar withthe new guidelines.

The literature shows that high arched palate is commonin children with Kabuki syndrome. Cleft Palate occurs inexcess of 50% of the children. Cleft Palate has signifi-cant implications for breathing, feeding, speech, jaw

See: Dental, page 8

Figure 3: Lateral Jaw X Ray Tracing of 12 Year Old Male with Kabuki Syndrome

Figure 4: Lateral Jaw X Ray Tracing ShowingSteep Angle of Lower Jaw

Figure 5: Typical Jaw Development from the Bolton Growth Study - Cleveland OH

Dental...Continued from page 6

- 7 -

development and dental develop-ment. Optimum management forchildren with cleft palate requires acoordinated management plan fromthe time of birth. The managementplan should involve a team of spe-cialists who will provide well coordi-nated care for all of these significantissues.

In addition to some degree of laxityof the muscles that position the lowerjaw, children with Kabuki Syndromealso have a higher risk of laxity in theligament and muscular structures thatposition the temporomandibular joint(TMJ) which is the hinge between thebase of the skull and the lower jaw.Although the literature doesn’t indi-cate that a high proportion of thechildren have problems with dys-function of the TMJ it is importantfor the child’s dental professional tomonitor the function of the joint dur-ing routine checkup visits.

Children with Kabuki Syndromecommonly have dental anomaliesthat can affect the shape, size andnumber of teeth. The two upper frontteeth (central incisors) often have acharacteristic shovel shape where thelower edge of the tooth is narrowerthan the mid portion. This is oppositeto the normal shape of this toothwhere the lower edge is the widestpart of the tooth. This is a dentalanomaly that is very rarely found inother children and the presence ofshovel shaped central incisors is onediagnostic sign that is helpful in for-mulation of a diagnosis of KabukiSyndrome. The dentist can improvethe shape of the central incisors withsimple cosmetic bonding materials.

Children with Kabuki Syndrome of-ten have agenesis or lack of forma-tion of one or more permanent teethresulting in missing permanent teeth.This most commonly involves theupper lateral incisors which are theteeth next to the big front ones(central incisors). When permanentteeth are missing there are a numberof management options that yourdentist can consider and discuss withyou.

Maintaining Basic Dental Health

For any children with special healthneeds the maintenance of good dentalhealth is very important. Childrenwith Kabuki Syndrome can have in-tellectual and behavioral parameterswhich make dental treatment diffi-cult. For these children it is extreme-ly important to prevent dental diseasein order to avoid the need for treat-ment which could be difficult to ac-complish.

In simple terms there are two dentaldiseases that should concern any par-ent. One is dental caries or what iscommonly referred to as decay orcavities. The second is inflammationor infection of the gum tissue whichis periodontal disease. Usually inchildren severe periodontal disease isuncommon but gingivitis which is anearly stage of the disease is muchmore common. Both cavities andgingivitis have a common cause inthat certain types of bacteria in themouth digest sugar containing foodsand secrete acids and toxins whichattack the teeth and the gum tissue.

Preventing cavities and gingivitis istherefore relatively straightforward

with three key actions by parents andchildren being important. One is todisrupt the bacteria and food that isleft around the teeth by at least twicedaily tooth brushing. Also in a childwho is cooperative, flossing is ofgreat value in cleaning the areas be-tween the teeth that can’t be reachedby the toothbrush. Second, teeth canbe strengthened by the use of fluoridewhich hardens the tooth enamel andmakes it more resistant to decay. Thefluoride can come in many formsincluding community water fluorida-tion, fluoride in toothpaste, fluoridesupplements by prescription if youlive in an area where the water is notfluoridated, or professionally appliedfluoride treatments. The third factorin preventing dental disease relates tocontrol of the diet. Sugar containingfoods provide food for the bacteriaand also if a child snacks frequently(or constantly) there are some naturalcavity healing mechanisms in themouth that don’t have a chance towork. Many of the dietary habits thatincrease a child’s risk for cavitiesalso are unhealthy for other concernslike childhood obesity.

Regular ongoing dental care is animportant part of good medical carefor a child with Kabuki syndrome.The American Academy of PediatricDentistry recommends the first dentalvisit be around one year of age. Thisprovides an opportunity to have abase line evaluation, have your ques-tions addressed and with the dentistdevelop a long term plan to assure thechild will grow with good dentalhealth. In a child with complex longterm health and developmental needsit is even more important to get a verysolid and early start on good oralhealth.

- 8 -Dental...Continued from page 7

.

Medical Journal ArticlesUpdated: October 2007 ~ April 2008

- 9 -

1: A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. Clinical Genetics. 2008 May;73(5):502-3. Epub 2008 Mar 11. No abstract available. Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y.

2: Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aber ration. BMC Med Genet. 2008 Apr 11;9(1):27 [Epub ahead of print] Cusco I, Del Campo M, Vilardell M, Gonzalez E, Gener B, Galan E, Toledo L, Perez-Jurado LA.

3: Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. Int Ophthalmol. 2008 Apr;28(2):131-4. Epub 2007 Aug 16. Chaudhry IA, Shamsi FA, Alkuraya HS, Al-Sharif A.

4: Hardikar syndrome: Long term outcome of a rare genetic disorder. (mentions Kabuki Syndrome) Am J Med Genet A. 2008 Mar 17; [Epub ahead of print] Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W.

5: Dental findings in Kabuki make-up syndrome: a case report. Spec Care Dentist. 2008 Mar-Apr;28(2):53-7. Rocha CT, Peixoto IT, Fernandes PM, Torres CP, de Queiroz AM.

6: A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage. Pediatr Cardiol. 2008 Feb 19; [Epub ahead of print] Shahdadpuri R, Lynch SA, Murchan H, McMahon CJ.

7: Predictive factors for success after transnasal endoscopic treatment of choanal atresia. Arch Otolaryngol Head Neck Surg. 2008 Jan;134(1):57-61. Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T.

8: Case report: autistic disorder in Kabuki syndrome. J Autism Dev Disord. 2008 Jan;38(1):198-201. Epub 2007 Aug 25. No abstract available. Akin Sari B, Karaer K, Bodur S, Soysal AS.

9: Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement. Congenit Heart Dis. 2007 Nov;2(6):424-8. Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M.

The Kabuki Journal is the newsletter of the Kabuki Syndrome Network. The purpose of this news-letter is to provide information and support to individuals with Kabuki syndrome and their families.KSN will not knowingly print inaccurate or livelous material. KSN does not promote or endorse any

treatment or professional. Consult your private physicians / professionals for information and advice regarding medical and therapeutic treatments.