Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

corriere

Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

enign neonatal with Myokymia

with triphalangia of thumbs

Triphalangeal thumbs

Epilepsy EBS-MP familial Joint laxity Osteoectasia familial

thrombocytopathy deafness

Epilepsy benign neonatal with

Ehlers-danlos syndrome type 11 familial idiopathic

Myokymia Ebstein anomaly

(formerly)

Hyperphosphatasia Schlegelberger Grote syndrome

Syndrome with triphalangia of

Convulsions benign familial neonatal

Hyperostosis corticalis deformans thumbs thrombasthenia Glanzmann

with Myokymia Ebstein's malformation EDS 11 (formerly)

juvenilis

and deafness of internal ear

benign familial neonatal with

Hyperphosphatasia familial

Myokymia Convulsions Eccentrochondrodysplasia Familial joint instability syndrome idiopathic Thromboangiitis obliterans

Myokymia with neonatal epilepsy ecchondromata Articular hypermobility syndrome Juvenile Paget disease Disease Buerger's

BFNC/Myokymia syndrome Hip dysplasia Jones Hersh Yusk syndrome Paget disease juvenile buerger disease

Benign paroxysmal torticolis of

Aplasia cutis cleft palate

Hyperphosphatasemia chronic

infancy enchondromata

epidermolysis

congenital idiopathic Thrombocytopathy

Benign pseudohypertrophic muscular

chronic congenital idiopathic

dystrophy

Muscular dystrophy

Eccrine acrospiroma Jones syndrome

Hyperphosphatasemia Thrombocytopathy asplenia miosis

pseudohypertrophic progressive

Fibromatosis gingival progressive

Thrombocytopenia absent radius

Becker type Eccrine spiradenoma

deafness

Gingival fibromatosis with

familial Osteoectasia

syndrome

Becker's muscular dystrophy Echinococcus granulosus sensorineural hearing loss osteofibrous dysplasia Absent radii and thrombocytopenia

Gingival fibromatosis with

Osteogenesis imperfecta perinatal Thrombocytopenia cerebellar

BEMD Echinococcosis

progressive deafness

lethal autosomal recessive hypoplasia short stature

Thrombocytopenia chromosome

BMD Alveolar echinococcosis Jorgenson Lenz syndrome OI type 2B

breakage

Familial thrombocytopenia

associated with platelet

Blepharophimosis radioulnar

autoantibodies and chromosome

Muscular dystrophy Becker type Eclampsia

synostosis OI2B

breakage

Thrombocytopenia autosomal

Becker muscular dystrophy Ecp syndrome Joubert syndrome 2 type 2B Osteogenesis imperfecta

perinatal lethal autosomal

dominant

Becker type Muscular dystrophy

recessive Osteogenesis

pseudohypertrophic progressive ectodermal defects Cerebellooculorenal syndrome 2 imperfecta Thrombocytopenia 2

Osteogenesis imperfecta type 1 Helmerhorst Heaton Crossen

Becker type Muscular dystrophy Hay wells syndrome CORS2

with dentinogenesis imperfecta syndrome

benign recurrent intrahepatic 1

autosomal dominant

Cholestasis 'Ectodermal dysplasia

Ectodermal dysplasia absent

dermatoglyphic pattern with

JBTS2 type 1A OI

Thrombocytopenia

change in nails and simian

Thrombocytopenia multiple

BRIC1

crease Joubert syndrome 6 type 1A Osteogenesis imperfecta congenital anomaly

Summerskill syndrome Basan syndrome JBTS6 OI type 1A

type 1 with dentinogenesis

Gardner Morrisson Abbot syndrome

benign recurrent intrahepatic 2 Ectodermal dysplasia absent Joubert syndrome bilateral

imperfecta Osteogenesis

Thrombocytopenia Paris-Trousseau

Cholestasis

dermatoglyphics

absent dermatoglyphic pattern

chorioretinal coloboma

imperfecta

type

with change in nails and simian

Osteogenesis imperfecta with

BRIC2

crease Ectodermal dysplasia

Ectodermal dysplasia alopecia

Dekaban-Arima syndrome

opalescent teeth Paris-Trousseau thrombocytopenia

Benson's syndrome

preaxial polydactyly

Ectodermal dysplasia and

jpa Osteolysis hereditary multicentric Paris-Trousseau syndrome

Posterior cortical atrophy

cerebellar ataxia Pilocytic astrocytoma juvenile Hereditary multicentric osteolysis Thrombocytopenia X-linked

Bentham Driessen Hanveld

Cerebellar ataxia ectodermal

syndrome

dysplasia

ectodermal dysplasia and

Juvenile pilocytic astrocytoma Torg osteolysis syndrome Thrombocytopenic purpura

lacrimal duct abnormality Tetra-

Thromboembolic pulmonary

Beradinelli-Seip syndrome

amelia

Tetra-amelia ectodermal

dysplasia and lacrimal duct

JPMR Osteolysis syndrome recessive hypertension

Berk tabatznik syndrome

abnormality

Madokoro Ohdo Sonoda

Juvenile polymyalgia rheumatica Osteomalacia TEPH

Berlin Breakage syndrome

syndrome

Ectodermal dysplasia

arthrogryposis diabetes

Juvenile cranial arteritis Osteonecrosis Thrombomodulin anomalies

Berman syndrome

mellitus Juvenile temporal arteritis AVN Thrombophilia hereditary

Ectodermal dysplasia Bartalos

Thrombophilia hereditary due to pc

Mucolipidosis type 4

type

Ectodermal dysplasia Berlin

Juvenile giant cell arteritis ON

deficiency

Ganglioside sialidase deficiency type JGCA Avascular necrosis PROC deficiency

Ganglioside neuraminidase

Ectodermal dysplasia

deficiency

blindness JPS Osteopaenia

Osteopathia striata associated with

hereditary Thrombophilia

Ectodermal dysplasia

familial dermopathy and white

ML 4

ectrodactyly macular dystrophy juvenile intestinal Polyposis forelock PC deficiency

Ectodermal dysplasia

Osteopathia striata with

hypohidrotic autosomal

pigmentary dermopathy including hereditary due to pc deficiency

ML has Disorder4

dominant

Ectodermal dysplasia

Polyposis juvenile intestinal white forelock

Thrombophilia

hypohidrotic hypothyroidism familial of entire gastrointestinal tract

due to Protein C deficiency

Bernard-Horner Syndrome

ciliary diskinesia

Polyposis Whyte Murphy syndrome Congenital thrombotic disease

Ectodermal dysplasia Polyposis familial of entire

Osteopathia striata cranial

Oculosympathetic Palsy

hypohidrotic X linked

gastrointestinal tract

sclerosis Thrombotic Storm

Christ-Siemens-Touraine

osteopenia and camptodactyly Catastrophic Antiphospholipid

Horner's syndrome

syndrome

Ectodermal dysplasia

Juvenile polyposis syndrome Prader-Willi habitus

Syndrome

Beryllium pneumonosis

Margarita island type jSSc Urban Rogers Meyer syndrome Moschcowitz disease

Bustos Simosa Pinto Cisternas

Osteopetrosis autosomal dominant

Chronic beryllium lung disease syndrome Juvenile linear scleroderma type 1 Thumb absence hypoplastic halluces

Thumb absent short stature immune

Beryllium granulomatosis Ectodermal dysplasia type 4 Juvenile Scleroderma OPTA1

deficiency

Autosomal recessive

Osteopetrosis with neuroaxonal Thumb ankylosis with mental

Chronic beryllium disease

ectodermal dysplasia

Ectodermal dysplasia

Juvenile systemic scleroderma dysplasia

retardation

Bessel-Hagen disease

Margarita type Juvenile-onset scleroderma Osteoporosis juvenile Piussan Lenaerts Mathieu syndrome

Ectodermal dysplasia mental

Thumb deformity alopecia

Osteochondromas

retardation CNS malformation

Ectodermal dysplasia mental

Juberg hayward syndrome juvenile Osteoporosis

pigmentation anomaly

Beta-galactosidase-1 deficiency retardation syndactyly Juberg Marsidi syndrome Idiopathic juvenile osteoporosis Thumb hypoplastic

betamannosidase deficiency Ectodermal dysplasia with Juberg-Marsidi Mental Retardation ijo Thumb deformity

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