Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

Flat face microstomia ear

Progressive bifocal chorioretinal Very long-chain acyl-CoA

Cholesterol esterification disorder anomaly

Blepharophimosis telecanthus

Marcus-Gunn phenomenon atrophy

dehydrogenase deficiency

Chondroblastoma (benign)


Simosa penchaszadeh bustos

Jaw-Winking syndrome CRAPB VODI syndrome


syndrome Marcus-Gunn syndrome PBCRA

Progressive black carbon

Hepatic veno-occlusive disease

Chondrocalcinosis familial articular Flat umbilicus familial Mandibulo-palpebral synkinesis hyperpigmentation of infancy Vogt-Koyanagi-Harada disease

Calcium pyrophosphate dihydrate Flat umbilicus autosomal

deposition disease

dominant Marden walker like syndrome Progressive cone dystrophy Volcke Soekarman syndrome

mental retardation short stature

spastic paraplegia and CNS

Familial articular chondrocalcinosis Flaujeac factor deficiency Marden-Walker syndrome Cone dystrophies

malformations Macrocephaly

Calcium gout HMWK deficiency mws progressive deafness Volcke-Soekarman syndrome

High molecular weight Connective Tissue Disorder Marden- progressive Diaphyseal dysplasia

Calcium pyrophosphate arthropathy kininogen deficiency

Walker Type

Generalized connective tissue

1 paraplegia

Chondrocalcinosis 2 Flavimonas oryzihabitans syndrome Camurati-Engelmann disease Volubilis

Flavimonas oryzihabitans Marden-Walker Type Connective Diaphyseal dysplasia 1


Chondrocalcinosis with early-onset


Tissue Disorder

progressive AnthTmis du matin

osteoarthritis F Oryzihabitans Marek's Disease Progressive diaphyseal dysplasia coloboma

Chondrocalcinosis 1 flegel's disease

Hyperkeratosis lenticularis

Neurolymphomatosis DPD1 Morning glory syndrome


perstans Fowl Paralyses Engelmann disease

progressive distal muscular

Von Hippel-Lindau syndrome

Chondrodysplasia HLP Marek disease

atrophy Von Hippel-Lindau disease

Chondrodysplasia lethal recessive Flegel disease Fowl Paralysis Myoclonus hereditary VHL


Hyperkeratosis lenticularis

progressive external with ragged

pseudohermaphrodism syndrome perstans of Flegel

flexion contracture of fingers

and facial dysmorphism

without peroxisomal

Marfan Syndrome type 2

red fibers Ophthalmoplegia Von Recklinghausen disease

Pseudohermaphrodism and abnormalities Congenital



Congenital glaucoma flexion

MFS 2 Kearns Sayre syndrome Neurofibromatosis type 1

contracture of fingers and

pigmentary degeneration of retina

Chondrodysplasia punctata with facial dysmorphism without Marfan like connective tissue and cardiomyopathy

steroid sulfatase deficiency

peroxisomal abnormalities disorder

Ophthalmoplegia Neurofibromatosis type I

Chondrodysplasia situs inversus Bowen syndrome of multiple

imperforate anus polydactyly malformations Marfan Syndrome type 3 CPEO with myopathy Type 1 neurofibromatosis

Chondrodystrophy Bowen syndrome MFS 3 Oculocraniosomatic syndrome NF1

Chondrodystrophy with sensorineural Leisti-Hollister-Rimoin



Florid cemento-osseous

Marfan Syndrome type 4 Ophthalmoplegia plus syndrome Recklinghausen's Disease


dysplasia Marfan Syndrome type 5 CPEO with ragged red fibers

Ophthalmoplegia progressive

Von Voss-Cherstvoy syndrome

Insley-Astley syndrome FCOD Marfan-Like syndrome

external with ragged red fibers

Ophthalmoplegia pigmentary

urogenital malformations

Florid cystic endosalpingiosis

degeneration of retina and

Nance Sweeney chondrodysplasia of the uterus Marfanoid disorder

cardiomyopathy thrombocytopenia

Cystic endosalpingiosis of the

Chronic progressive external

Nance-Insley syndrome


uterus craniosynostosis syndrome ophthalmoplegia with myopathy 98,000 thrombocytes/cc

dysplasia florid of nipple Papillomatosis Marfanoid hypermobility Mitochondrial cytopathy

Progressive extrapyramidal


Florid papillomatosis of the

disorder with primary

Von Willebrand factor receptor

OSMED Syndrome

nipple Marfanoid hypermobility syndrome hypogonadism and alopecia

Alopecia hypogonadism


Chondroectodermal dysplasia Florid osseous dysplasia Marfan syndrome type 1

extrapyramidal disorder Platelet glycoprotein 1b deficiency of

Mesoectodermal dysplasia FOD

Focal cemento-osseous

Contractural arachnodactyly progressive joint contractures Deficiency of Platelet glycoprotein 1b

Ellis-Van Creveld syndrome dysplasia MFS1 Progressive myositis ossificans Giant platelet syndrome

Progressive nephropathy with Vrolik type of osteogenesis

Chondroma (benign) Flynn Aird syndrome Marfan syndrome



Focal alopecia congenital Marfanoid mental retardation Progressive sclerosing



syndrome autosomal


progressive sensorineural


deafness Congenital corneal perinatal lethal form Osteogenesis

Chondromalacia patellae Focal cortical dysplasia Marfanoid syndrome


imperfecta congenita

Focal cortical dysplasia of

Corneal dystrophy and perceptive

Patellofemoral syndrome

Taylor Marginal glioneuronal heterotopia deafness

Congenital corneal dystrophy

type 2A OI

Mari type Alopecia universalis progressive sensorineural

Chondromatosis (benign) FCDT


Alopecia Universalis Congenita Mari

deafness OI type 2A

Chondrosarcoma Focal cortical dysplasia type 2 type CDPD

Corneal dystrophy and


Chordoma Cortical dysplasia of Taylor Mari type Total Hypotrichosis sensorineural deafness Osteogenesis imperfecta congenita

Osteogenesis imperfecta congenita

Chorea familial benign type 2 Focal cortical dysplasia Marie type ataxia progressive spasticity

Progressive spinal muscular

perinatal lethal form

Chorea minor Focal dystonia Marie's ataxia

atrophy type 2A Osteogenesis imperfecta

Focal facial dermal dysplasia

Progressive tapetochoroidal

Choreoacanthocytosis amyotrophic type 2 Marinesco-Sjogren syndrome dystrophy VSD

Bitemporal forceps marks Marinesco-Sjogren-Garland




Marinesco-Sjogren Syndrome-

Choroideremia Ventricular septal defect

abnormal behavior

Choreoathetosis with mental

Setleis syndrome

Myopathy Progressive vertebral fusion Interventricular communication

retardation X- linked FFDD type 2 Marinesco-Garland Syndrome Prolapsed mitral valve VSD; 4

Schimke X-linked mental retardation

Marinesco-Sjogren Syndromesyndrome

Facial ectodermal dysplasia Hypergonadotrophic Hypogonadism familial Mitral regurgitation Vsr syndrome

Focal facial dermal dysplasia Marinesco-Sjogren-like syndrome Myxomatous valvular disease Herrmann opitz arthrogryposis


type II




Choriocarcinoma focal Hyperinsulinism Marion mayers syndrome PMV Vulvar cancer

familial X-linked Mitral valve Vulvar dysesthesia localized in the

Chorioretinal atrophy Focal myositis Markel Vikkula Mulliken syndrome prolapse


Focal or multifocal

familial Myxomatous valvular


malformations in neuronal Marker X syndrome

disease Vulvar Vestibulitis Syndrome


More magazines by this user
Similar magazines