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SCIENTIFIC COORDINATOR of
the ITALIAN GOLDENHAR SYNDROME GROUP Prof. COHEN Amnon Director of Children and Neonatology Department at San Paolo Hospital in Savone e-mail:a.cohen@asl2.liguria.it Born on 10th September 1954 (ZRIFIN- Israel) - Citizenship: Israeli and Italian
• Degree in Medicine (Medical Doctor-M.D.) "Tel-Aviv University, Sackler School of Medicine-Israel" - 1981. DIDACTIC ACTIVITY: • Contract professor to teach "Endocrinology - 1st part" at First School of Specialization in Paediatrics, 1992 - 1993 Academic Year.
SCIENTIFIC COLLABORATORS Prof. Françoise FIRMIN "G. Bizet" Clinic Rue G. Bizet, 23 75116 PARIS tel. Accueil 0140693500 Standard 0140693434 Secretariat 0140 693510 Fax 0140693624 e-mail:francoisefirmin@damma.org
• Responsible of the Reconstructive and Aesthetic Plastics Service at “G. Bizet” Clinic in Paris; Prof. GIORDANETTO Joseph e-mail: joseph_giordanetto@fastwebnet.it
• Degree in Dentistry at Toulouse University, France, in 1974, specialization in Orthodontia in 1978; Prof. MERCIER Jacques Marie
CHU HÔTEL DIEU Stomatology and Maxillo-Facial Surgery Clinic Place Alexis Ricordeau BP 1005 44093 NANTES Cedex 01 • Professor of Maxillo-facial and Reconstructive Surgery at Nantes University. • Head physician of Maxillo-facial Surgery Service at Nantes Hospital. • Author of international fame of various articles on major dysmorphoses. • Past-president of the “French Society of maxillo-facial surgery”. • Director of the French journal of maxillo-facial surgery. • Author of articles and congresses at international level. Dr. Elena PIOZZI Director of the Hospital Service of Paediatric Ophthalmology at Niguarda Ca’ Granda Hospital MILAN e-mail:elena.piozzi@ospedaleniguarda.it Born on: 18th March 1950, in Perugia (Italy)
• Degree in Medicine and Surgery at Perugia University in July 1974 (final mark: 110/110 cum laude); • Specialized in Ophthalmology at Milan University in July 1978 (final mark: 70/70 cum laude); • From 1975 to 1978 ophthalmologist consultant at Gorgonzola Hospital (Milan) and at Department of Preventive Medicine at Clinic “Opera Universitaria” part of Milan University; • From 1978 to 1979 ophthalmologist consultant at Children Ophthalmology Centre of Milan Municipality; • In 1990 professional qualification for Hospital Chief Physician. • Since 1979 employee of the UO of Ophthalmology at Niguarda Ca’ Granda Hospital (Milan) with the following jobs: o 1979-1990: assistant o 1990-1999: Aid; from February to November 1996 Head Physician of the Hospital Unit of Paediatric Ophthalmology. o 1999-April 2001 Head Physician of the Hospital Unit of Ophthalmology o 1999-2000 Head Physician of the Hospital Unit of Children Ophthalmology o 2000 to the present: Director of the Hospital Unit of Paediatric Ophthalmology • Teacher of ophthalmology at the Nurses’ Training School of Sesto S. Giovanni Hospital Body and at Niguarda Cà Granda Hospital Body up to 1996 • Since 1990 to the present: ophthalmologist consultant at the Hospital Unit of Children Neuropsychiatry and Developmental Neurology at C. Besta Institute; • 1990: specialization course on development of children visual function at Operative Unit of Dr. Atkinson, Cambridge. • 2000-2001: she attended and passed the final examinations at the Course for Health Executives held by Lombardy Regional Authorities; • Member of one of the Study Commission of the “Italian Group for ROP” (premature infants’ retinopathy) with functions of elaborations of recommendations for the screening and Retinopathy therapy. • Auditor General in the SIOP (Italian Paediatric Ophthalmologic Society) Council. • Collaborator with Orphanet to create pages devoted to Duane Syndrome. • Speaker in various congresses, author of many publications and scientific works Oculist aspects in Goldenhar Syndrome Goldenhar syndrome, or oculo-auriculo-vertebral dysplasia, is characterized by the association with other eye anomalies. Most frequently observed alterations are: - eyelid coloboma - dermoid cysts - microphtalmus - refraction defects (astigmatism) - ocular motility disorders (among the peculiar associations: Duane Syndrome) Eyelid Coloboma It is the loss of substance due to an anomalous development taking place precociously during in utero life. It particularly interests the upper eyelid in its middle portion. Sometimes there may be multiple colobomas in the same eyelid. The surgical treatment aims at closing the fissure recreating a free, continuous rim to protect the eye and restore a satisfactory aesthetic preventing the eyelid to be elevated incorrectly. Eyelid treatment uses grafts of autologuous tissue, i.e. taken from the same patient, to restore palpebral integrity Dermoid Cysts Epibulbar dermoid cysts, which more often interest the outer side of the eye ball, may vary in dimension. Such cysts can interest the sclero-conjuntiva portion (white part of the eye) as well as the cornea in strict sense. They sometimes cause a secondary astigmatism and consequently reduce vision Exclusively those forms interesting the cornea in its central part, which occupy the pupillary area and prevent the correct vision, must be treated precociously with surgery. Other cases can be treated as soon as patients grow up a bit older. The ablation of the dermoid cyst must include the total ablation of the fibro-vascular tissue along with the implantation of amnion. The use of amnion is a recent experience and can improve some patients’ prognosis. Other cases can benefit from keratoplasty. Microphtalmus Generally microphtalmus is not serious. If it compromises the growth of the orbit, cosmetic lenses will be required as therapeutic treatment. Error of refraction Astigmatism and errors of refractions must be corrected to improve the development of a good bilateral sight function. Correction with glass lenses may require particular attention and suitable devices to overcome the difficult support on malformed ala auris. When possible, corneal lenses will be used. Ocular Motility Disorders Muscular palsy is possibly found in connection with the lack of development of nucleuses of origin of some cranial nerves at the origin of innervation and ocular muscle function. Duane Syndrome is a form of strabismus that can be associated to Goldenhar Syndrome. There are various forms, the most common is characterised by the impossibility to turn the eye outward. In some cases the child keeps its head twisted or bent toward the shoulder to cover the range of action of the muscle which does not move. As for other strabismus forms, ophthalmic and orthoptic exams aim at verifying the correct development of the child’s normal sight. Strabismus therapy requires - lenses prescription, if errors of refraction are present - occlusion therapy, if the two eyes have a different vision (lazy eye) - surgery operation to restore eye alignment and to correct possible anomalous head positions. Which is the Oculist Task? The child must be addressed to a skilled paediatric ophthalmologist to evaluate its sight function. In fact, if some malformations are visible at birth and can be easily recognised by parents and by paediatricians, the diagnosis of other possible anomalies require a more careful exam. We make the following exams: - orthoptist evaluation - slit lamp exam - fondus oculi exam - visus exam - electro-physiologic exams (VEP, ERG, EOG) - eye echography other exams may be added if they are required in a single case. Most exams are made while the child is awake, using little expedients to call its attention and to have the best collaboration. Only in selected cases we complete exams with diagnostic narcosis. Who Are We? Paediatric Ophthalmologist service at Niguarda Hospital is a complex structure which has been devoted exclusively to children since 1990. There are 4 doctors who work in a health care centre, perform diagnostic examinations with instruments, and surgery. Along with these doctors there are 5 orthoptists who are particularly expert in eye motility studies and in strabismus diagnosis. We give 20,000 specialized treatments and about 500-600 surgery interventions every year. Surgery activity is supported by a team of anaesthetists who are highly competent and specialized in children and premature children anaesthesia. A plastic surgeon collaborates with us to reconstruct eyelids and conjunctiva, and in case of multi-malformation pathologies. We also provide consultations in collaboration with neonatology and children neuropsychiatry in other hospitals in Milan, in particular: Macedonio Melloni Day Hospital and Carlo Besta Scientific Research Institute. We take care of Rare Diseases being the Regional Specialised Centre. For some years children affected by Goldenhar Syndrome have come to our health centre. The most frequent eye anomalies we observed are - dermoid cysts - strabismus - Duane Syndrome - eyelid colobomas. Elena PIOZZI Short biography: - Martinelli P, Maruotti GM, Agangi A, Mazzarelli LL, Bifulco G, Paladini D. Yonsei: Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Med J. 2004 Feb 29;45(1):157-60. - Berker N, Acaroglu G, Soykan E.: Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy. J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S11-3. - Miller TD, Metry D.: Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. Braz Dent J. 2003;14(1):67-70. Epub 2003 Jul 31. - Pinheiro AL, Araujo LC, Oliveira SB, Sampaio MC, Freitas AC.: Goldenhar's syndrome--case report. Braz Dent J. 2003;14(1):67-70. Epub 2003 Jul 31. - Marshman WE, Schalit G, Jones RB, Lee JP, Matthews TD, McCabe S.: Congenital anomalies in patients with Duane retraction syndrome and their relatives. J AAPOS. 2000 Apr; 4(2):106-9 Dott.ssa LALATTA Faustina Doctor specialised in medical genetics and paediatrics. In charge of the area of Medical Genetics of Specialization Clinical Institutes in Milan e-mail: flalatt@tin.it
Existing since 1990 at ICPs, the Medical Genetics Service is part of the Internal Medicine Department (directed by Prof. P.A. Bertazzi) The doctors working at the Genetics Service are the following: - Dr. Faustina Lalatta, in charge of the Service. Specialised in Medical Genetics and Paediatric - Dr. M. Francesca Bedeschi, Specialised in Medical Genetics - Dr. Pierangela Castorina, Specialised in Medical Genetics - Dr. Stefano Goldwurm, Specialised in Medical Genetics - Dr. Federica Natacci, Specialised in Medical Genetics - Dr. Luigina Spaccini, Specialised in Medical Genetics Medical genetics activity takes place in: Via Commenda, Ospedale Buzzi and the Orthopaedic Traumatology Centre (CTO). In these centres there are the most important maternity service present in Lombardy: Mangiagalli Clinic and Buzzi Hospital. For this reason in the years we had to develop an efficient and complete service to assist those couples with genetic risks who wish to have children. We are persuaded that the problem of pregnancy for those whose possibility to transmit genetic diseases is increased should be faced BEFORE pregnancy. This gives the possibility to have relevant information in a quiet moment, and to have all the time required to perform investigations and exams, and most of all to help couples to be more informed and to make their choices more consciously. For this reason we are interested in taking part to any action aimed at making the public opinion more conscious about the various aspects concerning indication, feasibility and the scope of genetic tests during pregnancy. Which are our goals? Which are the fields we work in? what do medical genetics visit and genetic consult mean? The Medical Genetic Service is highly specialized, and those who address to it are patients who have possible or demonstrated genetic problems. Genetics doctors who work there have many activities including identification and clinical diagnosis, suggestion of lab analysis, and genetic consultation. Their job integrates with other clinical services (internal medicine, paediatrics, cardiology, obstetrics, neurology, etc.) and with lab services. Their specific professional role often leads the diagnostic and assistance research thanks to the large range of competences in genetic pathologies. They help the rest of a family to face the consequences of the diagnosis of a genetic disease present in a family member. WHICH ARE OUR GOALS? The Genetics Service aims at: Helping people with an augmented genetic risk to live and have children as normally as possible and to take “informed” decisions for the sake of their health; Assisting people affected by diseases, that are often unknown to the larges part of specialists, to access to relevant medical services (diagnoses, therapies, rehabilitation, prevention) and to supportive social structures. Granting - a timely diagnosis - a correct information on the disease - an accurate definition of transmission risks - assistance in case of pregnancy at risk - a genetic consultation to family members at risk Providing information on the relevant development of research applied to clinics. WHICH ARE THE FIELDS WE WORK IN? Pre-conception to identify the reproduction risks, to provide information and to educate about reproduction risks; to indicate and filter genetic tests. Pre-birth to assist and support those couples with a high genetic risk in connection with Pre-Birth Diagnosis Centres. After Birth to offer genetic consultation to those parents with children born with congenital defects integrating the neonatal doctors’ activity. Adulthood to diagnose rare diseases in adult patients, to put into practice assistance following scientific societies’ protocols to follow patients constantly from paediatric age to adulthood in collaboration with De Marchi Paediatric Clinic (directed by dr. Angelo Selicorni), to offer and manage genetic tests on family members at risk. WHAT DO YOU MEAN BY MEDICAL GENETIC VISIT AND GENTIC CONSULTATION? The first visit, which lasts about 40 min., is necessary to identify the problem. During this visit the record of medical observation is filled (personal data are gathered, the personal and familiar case history and the definition of the family tree are written down; the consent to process and use personal data is required). In cast of a medical genetics visit, after this first phase, the patient is visited. In specific cases, with the previous consent of the patient, photos are taken. The doctor then evaluates the problem, and eventually a diagnosis can be provided or further exams or documents may be required via telephone or in a written form. The genetics consultation ends with a written document, which can be sent to the patient’s address, or in specific cases, collected in occasion of another meeting with the doctor. To fix an appointment for a visit or a genetic consultation, please, dial the following number 02/57992321 on Mondays and Wednesdays from 9.00 to 12.30. We remind you that it is not possible to provide genetic consultation on the phone. At the moment of the visit, it is necessary to have: - a request by the personal doctor or by the gynaecologist in charge with a request of "genetics consultation" for each patient - the complete clinical dossier concerning the problem requiring the consultation (medical records, laboratory exams, photos, radiographies, etc....) Health care centres specific for the pathology besides the health care centres for general genetic consultation are operative. They are for patients affected by: - Genetic deafness - Neurofibromatosis and tuberous sclerosis in adulthood - Marfan Syndrome and correlated pathologies in adulthood - Cystic fibrosis - Neurology and neurodegeneration pathologies - Muscular dystrophies - Metabolism diseases in adulthood - Diagnostic identification of multi-malformation pathologies detected during pregnancy - Diagnostic identification in patients affected by mental retardation in adulthood The Service of Medical Genetics is in Mangiagalli Clinic, via della Commenda 12, Milan, ground floor, along the main corridor. The activity also takes place in: Buzzi Hospital (obstetrician health centre), CTO (Parkinson Centre) Dr. Faustina Lalatta, doctor specialised in medical genetics and paediatrics. In charge of the area of Medical Genetics of Specialization Clinical Institutes in Milan. Specific Competences: definition of procreation risks, assistance to couples at risk in during pregnancy, interpretation of complex diagnoses results or doubts concerning foetal tissues, identification of malformation syndromes during pregnancy in collaboration with the obstetrician team. PROF. ROBERTO BRUSATI CURRICULUM VITAE Born in Milan on 7th September 1941, he took his degree in Milan in 1965, with full marks and honours. He specialised in Odontostomatology and in Reconstructive Plastic Surgery. Following the university career, he had Chair and Department of Maxillo-Facial Surgery at the University of Parma, in 1980. He had created and has been directing the Specialisation School for Maxillo-Facial Surgery since 1987. Called at the University of Milan in 1992, he has been directing its Chair and Division of Maxillo-Facial Surgery. At San Paolo Hospital, he created the Regional Centre for Cleft Lip and Palate. He wrote 150 articles published on Italian and foreign magazines, textbooks and chapters appeared both on Italian and foreign textbooks. Prof.BRUSATI Roberto roberto.brusati@unimi.it Tel. 02/8184 4341/4501 Maria Costanza Meazzini
CURRICULUM VITAE Maria Costanza Meazzini, M.D., specialised in Dentofacial orthopaedics and Jaw Orthopaedics at Harvard University (Boston, USA, 1991-1995) and also had a Master of Medical Sciences and a certificate at the Centre for Cranio-facial Malformations, at Children's Hospital in Boston (directed by Prof JB Mulliken). Then she specialised in Facial Orthopaedic for the Craniofacial Anomalies at the University of Illinois in Chicago (directed by J Polley), (Chicago, USA, 1996-1997). She ended some internships (6 months) at the Centres for the Craniofacial Malformations at Taipei, Taiwan (Chung Gung Memorial Hospital; directed by Prof Nordoor), Tokio, Japan (Tokyo Medical School, directed by Prof. T. Kuroda), Mexico City (Gea Gonzalez Hospital; directed by Prof F. Ortiz-Monasterio). She is Orthodontics Advisor at the Regional Centre for Treatment of Cleft Lip and Palate (San Paolo Hospital, Milan; directed by Prof R. Brusati) and Advisor for the Orthodontics Treatment in Craniofacial Malformations at the Department of Maxillo-Facial Surgery (San Gerardo Hospital, Monza; directed by Prof A. Bozzetti). She is Professor in Pre-Surgical Orthodontics and Orthodontics for craniofacial malformations, in the specialisation course in Maxillo-facial Surgery (Milano-Bicocca University; directed by Prof A. Bozzetti) and in Orthodontics in Craniofacial Malformations at the specialisation course in Dento-facial Orthopaedics (University of Milan; directed by Prof. A. Salvato). Dott.ssa MEAZZINI Costanza cmeazzini@yahoo.itTel.02/8184 4341/4501 Prof. Giovanna Garattini
Associate Professor of Dentofacial Orthopaedics University of Milan Department of Surgical Medicine and Dentistry Dental Building Via Beldiletto 1/3 20142 Milan - Associate Professor of Dentofacial Orthopaedics - Degree in Medicine and Surgery and specialisation in Odontostomatology and Dentofacial Orthopaedics - Regular Professor of Dentofacial Orthopaedics teaching Dentistry and Dental Prosthesis classes to degree students at the University of Milan, Polo San Paolo - Regular Professor of Dentofacial Orthopaedics teaching Dental Hygiene classes to degree students - Regular Professor of Dentofacial Orthopaedics at the Specialisation School for Mandibulo-Facial Surgery at the University of Milan - Professor at the Specialisation School for Dentofacial Orthopaedics at the University of Milan - Person in charge of the Departments of Dentofacial Orthopaedics at the Dental Building Department at San Paolo Hospital - Co-ordinator of the Regional Centre for Cleft Lip and Palate at the Chair and Department of Mandibulo-Facial Surgery at San Paolo Hospital, directed by Prof. Roberto Brusati - Italian representative in the European Community in the area of cleft lip, jaw and palate and cranio-maxillo-facial malformations - Person in charge in Italy of European research projects called Eurocleft and Eurocran - Author of more than 170 Italian and international academic publications in the field of dentofacial orthopaedics and dentistry - She delivered various communications and lectures in the dentofacial orthopaedics field - She is an active member of SIDO (Italian Dental Society), and founder member and past president of SILPS (Italian Society for Cleft Lip and Palate and Cranio-maxillo-facial malformations). TREATMENT PROTOCOLS FOR OTOMANDIBOLAR DYSOSTOSES AND GOLDENHAR SYNDROMES AT THE REGIONAL CENTRE FOR CLEFT LIP AND PALATE AND CRANIOFACIAL MALFORMATIONS AT SAN PAOLO HOSPITAL IN MILAN (Directed by Prof. R. Brusati) The complete forms of the I and II branchial arch, with absent temporomandibular joint (TMJ) and absent ear, are treated following a therapeutic process made up by several interventions. Usually, in early life, the interventions are limited to the correction of macrostomy, and the reconstruction of the orbit muscles, and the elimination of possible fibrocartilaginous bridges close to the tragus. When patients are about ten years old, the reconstruction of the ear can be started, creating a cartilage scaffolding with autologous rib cartilage and its placement in the correct position after the elimination of the auricular hillock. Usually in two surgical interventions the reconstructed pavilion is detached from the rear. TMJ and absent mandibular branch, as well as the zygomatic buttress, are reconstructed with two grafting interventions using autoplastic rib bone. In the case of the branch, both bone and cartilage are transplantated, as the passage between bone and cartilage is at the condyle extremity. There it will form the new joint surface. This way the growth centre will be included in the graft as well. During the reconstruction of the branch, the jaw is placed in its correct position (with or without osteotomy of the opposite branch), centred referring to face midline. The consequent growth of bone and cartilage graft is little foreseeable. In some cases it is reduced compared to the normal face side. In others it is excessive. When the joint situation is type II B or when the graft allows a reduced growth only, it can be suggested, especially if there are psychological needs, either a precocious osteotomy when patients are about 9-10 years old (even knowing that when growth stops a new final osteotomy intervention will be needed), or an osteodistraction process (distraction of the fractured bone proceeds at the rate of about 1 mm per day using devices placed on the down-fractured bone, either externally or not). Even in the latter case there will be the need of a new intervention at the end of growth, since the genetic pattern of asymmetric growth tends to be visible in the following years. Along with the correction of bone problems, the orthodontist will correct the open bite malocclusion. Minor forms (type I) require orthodontic treatments to stimulate functionality. They especially give dental-alveolar compensation rather than a real bone symmetry. But in lesser forms acceptable aesthetic results can be achieved. When hearing disorders are found, and one ear is not compromised, usually the pathologic one is not touched. If both ears are interested there is the possibility to recreate precociously the missing or compromised sound transmission apparatus (usually the inner ear is complete and the transfer of sound through the bone allows the perception of sounds in any case using the suitable hearing aid). For the orbit- and zygomatic problems, bone grafts (from the cranial theca) and a canthoplasty can best solve the lack of symmetry found at this stage. Deformities still present at the end of growth are usually corrected with surgical interventions on both jaw bones: chin plastic surgery and grafts to fill the gaps. Goldenhar Syndrome has more or less the same features of otomandibular dysostoses even if, unlike the latter, the Syndrome is often bilaterally asymmetric. TMJ is less involved. Mandibular branch, and vertebrae malformations are present. Eye manifestations are typical, especially on the outer area, such as epibulbar cysts and dermolipomes, superior eyelid coloboma. Canthal dystopia is absent in Goldenhar patients. As far as macrostomy, ear, and bone alterations are concerned, the treatment is similar to the one used to correct otomandibular dysostoses. Epibulbar cysts, eye dermolipomes, and superior eyelid coloboma can be treated surgically already in early life. If they prevent binocular vision or corneal exposition, the treatment shall be anticipated. CENTRO REGIONALE PER LE LABIOPALATOSCHISI E MALFORMAZIONI CRANIO-FACCIALI OSPEDALE SAN PAOLO DI MILANO DIVISIONE DI CHIRURGIA MAXILLO-FACCIALE UNIVERSITA’ DEGLI STUDI DI MILANO C.U.P. (CENTRO UNICO DI PRENOTAZIONE S. PAOLO) TEL. 800.63.86.38 |
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