Articoli su pubmed.ncbi.nlm.nih.gov inerenti le Malformazioni congenite, sindromi genetiche e cromosomopatie
Ascolta
| Arnold-Chiari sindrome di | Arnold-Chiari syndrome |
| Microcefalia isolata o sindromica | Isolated or syndromic microcephaly |
| Agenesia cerebellare | Cerebellar agenesis |
| Joubert sindrome di | Joubert syndrome |
| Lissencefalia isolata o sindromica | Isolated or syndromic lissencephaly |
| Oloprosencefalia isolata o sindromica | Isolated or syndromic holoprosencephaly |
| Andermann sindrome di | Andermann syndrome |
| Dandy-Walker sindrome di | Dandy-Walker syndrome |
| Aase-Smith sindrome di | Aase-Smith syndrome |
| Neuroacantocitosi | Neuroacanthocytosis |
| Sindrome acrocallosa | Acrocallosal syndrome |
| Walker-Warburg sindrome di | Walker-Warburg syndrome |
| Ben Ari-Shuper-Mimouni sindrome di | Ben Ari-Shuper-Mimouni syndrome |
| Bonnemann-Meinecke sindrome di | Bonnemann-Meinecke syndrome |
| Displasia cerebro-facio-toracica | Cerebrofaciothoracic dysplasia |
| Sindrome idroletale | Hydrolethal syndrome |
| TorielloC arey sindrome di | TorielloC arey syndrome |
| Gerstmann sindrome di | Gerstmann syndrome |
| Lenz sindrome di | Lenz syndrome |
| Sindrome anoftalmia plus | Anophthalmia plus syndrome |
| Foix-Chavany-Marie sindrome di | Foix-Chavany-Marie syndrome |
| Axenfeld-Rieger anomalia di | Axenfeld-Rieger anomaly of |
| Axenfeld-Rieger sindrome di | Axenfeld-Rieger syndrome |
| Peters anomalia di | Peters anomaly of |
| Aniridia | Aniridia |
| Coloboma congenito corioretinico | Congenital chorioretinal coloboma |
| Coloboma congenito dell’iride | Congenital coloboma of the iris |
| Coloboma congenito del disco ottico | Congenital coloboma of the optic disc |
| Morning glory anomalia di | Morning glory anomaly of |
| Persistenza della membrana pupillare | Persistence of the pupillary membrane |
| Norrie malattia di | Norrie's disease |
| Vogt-Koyanagi-Harada sindrome di | Vogt-Koyanagi-Harada syndrome |
| Displasia setto-ottica | Septo-optic dysplasia |
| Fraser sindrome di | Fraser syndrome |
| Weill-Marchesani sindrome di | Weill-Marchesani syndrome |
| Aicardi sindrome di | Aicardi syndrome |
| Baraitser-Winter sindrome di | Baraitser-Winter syndrome |
| Nance-Horan sindrome di | Nance-Horan syndrome |
| Sindrome cerebrooculo-nasale | Cerebrooculonasal syndrome |
| Sindrome CODAS | CODAS syndrome |
| Acrocefalosindattilia | Acrocephalosyndactyly |
| Apert sindrome di | Open syndrome |
| C sindrome | C syndrome |
| Goodman sindrome di | Goodman syndrome |
| Hallerman-Streiff sindrome di | Hallerman-Streiff syndrome |
| Pierre-Robin sindrome di | Pierre-Robin syndrome |
| Treacher-Collins sindrome di | Treacher-Collins syndrome |
| Antley-Bixler sindrome di | Antley-Bixler syndrome |
| Baller-Gerold sindrome di | Baller-Gerold syndrome |
| Carpenter sindrome di | Carpenter syndrome |
| Pfeiffer sindrome di | Pfeiffer syndrome |
| Summitt sindrome di | Summitt syndrome |
| Jackson-Weiss sindrome di | Jackson-Weiss syndrome |
| Nager sindrome di | Nager syndrome |
| Cranio-fronto-nasale sindrome | Craniofrontonasal syndrome |
| Craniosinostosi primaria | Primary craniosynostosis |
| Crouzon malattia di | Crouzon's disease |
| Disostosi cleidocranica | Cleidocranial dysostosis |
| Disostosi mandibolofacciale | Mandibulofacial dysostosis |
| Disostosi maxillofacciale | Maxillofacial dysostosis |
| Displasia frontofacionasale | Frontofaceonasal dysplasia |
| Displasia mandibolo-acrale | Mandibulacral dysplasia |
| Displasia maxillonasale | Maxillonasal dysplasia |
| Palatoschisi isolata o sindromica | Isolated or syndromic cleft palate |
| Mohr malattia di | Mohr's disease |
| Moebius sindrome di | Moebius syndrome |
| Oculofaciocardiodentale sindrome | Oculofaciocardiodental syndrome |
| Oro-facio-digitale sindrome di tipo 1 | Oro-facio-digitalis syndrome type 1 |
| Schinzel-Giedion sindrome di | Schinzel-Giedion syndrome |
| Goldenhar sindrome di | Goldenhar syndrome |
| Sindrome cefalopolisindattilia di Greig | Greig's cephalopolysyndactyly syndrome |
| Sindrome oto-palato-digitale | Oto-palato-digital syndrome |
| Focomelia | Phocomelia |
| Deformità di Sprengel | Sprengel deformity |
| Camptodattilia familiare | Familial camptodactyly |
| Poland sindrome di | Poland syndrome |
| Sindrome femoro-facciale | Femoral facial syndrome |
| Sindromi con artrogriposi multiple congenite | Syndromes with congenital arthrogryposis multiplex |
| Roberts sindrome di | Roberts syndrome |
| Sindrome trisma pseudocamptodattilia | Trismus pseudocamptodactyly syndrome |
| Freeman-Sheldon sindrome di | Freeman-Sheldon syndrome |
| Sequenza da ipocinesia fetale | Sequence from fetal hypokinesia |
| Sindrome da pterigi multipli | Multiple pterygia syndrome |
| Sindrome RAPADILINO | RAPADILINO syndrome |
| Sequenza sirenomelica | Sirenomela sequence |
| Adams-Oliver sindrome di | Adams-Oliver syndrome |
| Sindrome trombocitopenica con aplasia del radio | Thrombocytopenic syndrome with radial aplasia |
| Cuore criss-cross | Criss cross heart |
| Ebstein anomalia di | Ebstein anomaly of |
| Sindrome del cuore sinistro ipoplasico | Hypoplastic left heart syndrome |
| Blue rubber bleb nevus | Blue rubber bleb nevus |
| Ivemark sindrome di | Ivemark syndrome |
| Klippel-Trenaunay sindrome di | Klippel-Trenaunay syndrome |
| Aneurisma della vena di Galeno | Aneurysm of the vein of Galen |
| Malformazione arterovenosa cerebrale | Cerebral arteriovenous malformation |
| Malformazione cavernosa cerebrale ereditaria | Hereditary cerebral cavernous malformation |
| Malformazione cranica del seno durale | Cranial malformation of the dural sinus |
| Sindrome CLOVE | CLOVE syndrome |
| Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM) | Capillary malformation arteriovenous malformation syndrome (MAVM) |
| Sindrome metamerica arterovenosa cerebrofacciale | Cerebrofacial arteriovenous metameric syndrome |
| Klippel-Feil sindrome di | Klippel-Feil syndrome |
| Gastroschisi | Gastroschisis |
| Sindrome Prune Belly | Prune Belly Syndrome |
| Onfalocele | Omphalocele |
| Pentalogia di Cantrell | Cantrell pentalogy |
| Malformazione ano-rettale in forma isolata o sindromica | Anorectal malformation in isolated or syndromic form |
| Hirschsprung malattia di | Hirschsprung's disease |
| Goldberg-Shprintzen sindrome di | Goldberg-Shprintzen syndrome |
| Atresia biliare | Biliary atresia |
| Caroli malattia di | Caroli's disease |
| Malattia del fegato policistico | Polycystic liver disease |
| Atresia ileale | Ileal atresia |
| Atresia colica | Colic atresia |
| Atresia intestinale multipla | Multiple intestinal atresia |
| Cloaca persistente | Persistent cloaca |
| Duplicazioni del tubo digerente | Duplications of the digestive tract |
| Complesso OEIS | OEIS complex |
| Atresia esofagea e/o fistola – tracheoesofagea | Esophageal atresia and/or tracheoesophageal fistula |
| Atresia del digiuno | Fasting atresia |
| Atresia o stenosi duodenale | Atresia or duodenal stenosis |
| Ipoplasia/Aplasia della muscolatura della parete gastrica | Hypoplasia/Aplasia of the muscles of the gastric wall |
| Microgastria | Microgastria |
| Sindrome dell’intestino corto congenito | Congenital short bowel syndrome |
| Rene con midollare a spugna | Kidney with medullary sponge |
| Malattia renale cistica genetica | Genetic cystic kidney disease |
| Senior-Loken sindrome di | Senior-Loken syndrome |
| Rene policistico autosomico recessivo | Autosomal recessive polycystic kidney disease |
| Meckel sindrome di | Meckel syndrome |
| Estrofia vescicale | Bladder exstrophy |
| Gonadico e/o fenotipo | Gonadal and/or phenotype |
| Disgenesia gonadica | gonadal dysgenesis |
| Perrault sindrome di | Perrault syndrome |
| Sindrome da insensibilità completa agli androgeni | Complete androgen insensitivity syndrome |
| Sindrome da insensibilità parziale agli androgeni | Partial androgen insensitivity syndrome |
| Pseudoermafroditismi | Pseudohermaphroditism |
| Denys Drash sindrome di | Denys Drash Syndrome |
| Ermafroditismo vero | True hermaphroditism |
| cariotipo/sviluppo gonadico e/o fenotipo | karyotype/gonadal development and/or phenotype |
| Frasier sindrome di | Frasier syndrome |
| Sindrome SERKAL | SERKAL syndrome |
| Afallia | Afallia |
| Epispadia | Epispadias |
| Megalouretra | Megalourethra |
| Mayer Rokitansky Kuster Hauser sindrome di | Mayer Rokitansky Kuster Hauser syndrome |
| Acrodisostosi | Acrodysostosis |
| Sindrome da regressione caudale | Caudal regression syndrome |
| Acondrogenesi | Achondrogenesis |
| Acondroplasia | Achondroplasia |
| Condrodisplasia letale | Lethal chondrodysplasia |
| Condrodisplasia metafisaria | Metaphyseal chondrodysplasia |
| Condrodisplasia tipo Blomstrand | Chondrodysplasia Blomstrand type |
| Condrodistrofia congenita non tipizzata | Untyped congenital chondrodystrophy |
| Desbuquois sindrome di | Desbuquois syndrome |
| Displasia acromicrica | Achromic dysplasia |
| Displasia epifisaria emimelica | Hemimelic epiphyseal dysplasia |
| Displasia metatropica | Metatropic dysplasia |
| Displasia otospondilomegaepifisaria | Otospondylomegaepiphyseal dysplasia |
| Displasia pseudoreumatoide progressiva | Progressive pseudorheumatoid dysplasia |
| Distrofia toracica asfissiante | Asphyxiating thoracic dystrophy |
| Encondromatosi multipla | Multiple enchondromatosis |
| Esostosi multipla | Multiple exostosis |
| Ipocondroplasia | Hypochondroplasia |
| Keutel sindrome di | Keutel syndrome |
| Kniest displasia | Kniest dysplasia |
| Larsen sindrome di | Larsen syndrome |
| Schwartz-J ampel sindrome di | Schwartz-J ampel syndrome |
| Sindrome camptomelica | Camptomelic syndrome |
| Atelosteogenesi | Atelosteogenesis |
| Buschke-Ollendorff sindrome di | Buschke-Ollendorff syndrome |
| Conradi Hunermann Happle sindrome di | Conradi Hunermann Happle syndrome |
| Discondrosteosi | dyschondrosteosis |
| Displasia craniometafisaria | Craniometaphyseal dysplasia |
| Displasia diastrofica e pseudodiastrofica | Diastrophic and pseudodiastrophic dysplasia |
| Displasia fibrosa | Fibrous dysplasia |
| Displasia gnatodiafisaria | Gnathodiaphyseal dysplasia |
| Displasia spondiloepifisaria | Spondyloepiphyseal dysplasia |
| Displasia spondilometafisaria | Spondylometaphyseal dysplasia |
| Ellis-van Creveld sindrome di | Ellis-van Creveld syndrome |
| Engelmann malattia di | Engelmann's disease |
| Fairbank malattia di | Fairbank's disease |
| Frank-Ter Haar sindrome di | Frank-Ter Haar Syndrome |
| Hajdu Cheney sindrome di | Hajdu Cheney syndrome |
| Mc Cune Albright sindrome di | McCune Albright Syndrome |
| Osteodistrofia congenita non tipizzata | Untyped congenital osteodystrophy |
| Osteogenesi imperfetta | Osteogenesis imperfecta |
| Osteopetrosi | Osteopetrosis |
| Picnodisostosi | Pycnodysostosis |
| Sindrome DOOR | DOOR syndrome |
| Sindrome osteoporosi-pseudoganglioma | Osteoporosis-pseudoganglioma syndrome |
| Maffucci sindrome di | Maffucci syndrome |
| Displasia spondiloepifisaria congenita | Congenital spondyloepiphyseal dysplasia |
| Dyggve Melchior Clausen (DMC ) sindrome di | Dyggve Melchior Clausen (DMC ) syndrome |
| Jarcho-Levin sindrome di | Jarcho-Levin syndrome |
| Sindromi da aneuploidia cromosomica | Chromosomal aneuploidy syndromes |
| Turner sindrome di | Turner syndrome |
| Pallister-Killian sindrome di | Pallister-Killian syndrome |
| Sindrome del Cri Du Chat | Cri Du Chat Syndrome |
| WAGR sindrome di | WAGR syndrome |
| Williams sindrome di | Williams syndrome |
| Wolf-Hirschhorn sindrome di | Wolf-Hirschhorn syndrome |
| Sindrome del cromosoma X fragile | Fragile X chromosome syndrome |
| Loeys-Dietz sindrome di | Loeys-Dietz syndrome |
| Shprintzen-Goldberg sindrome di | Shprintzen-Goldberg syndrome |
| Marfan sindrome di | Marfan syndrome |
| Ehlers Danlos sindrome di | Ehlers Danlos Syndrome |
| Stickler sindrome di | Stickler syndrome |
| Nanismo osteodisplastico microcefalico primitivo (MOPD) | Primary microcephalic osteodysplastic dwarfism (MOPD) |
| Aarskog sindrome di | Aarskog syndrome |
| Dubowitz sindrome di | Dubowitz syndrome |
| Robinow sindrome di | Robinow syndrome |
| Russell Silver sindrome di | Russell Silver Syndrome |
| Seckel sindrome di | Seckel syndrome |
| SHORT sindrome | SHORT syndrome |
| Emiipertrofia congenita | Congenital hemihypertrophy |
| Beckwith-Wiedemann sindrome di | Beckwith-Wiedemann syndrome |
| Sotos sindrome di | Sotos syndrome |
| Weaver sindrome di | Weaver syndrome |
| Simpson-Golabi-Behmel sindrome di | Simpson-Golabi-Behmel syndrome |
| Marshall-Smith sindrome di | Marshall-Smith syndrome |
| sindromi note) | known syndromes) |
| Alagille sindrome di | Alagille syndrome |
| Alstrom sindrome di | Alstrom syndrome |
| Amartomatosi multiple | Multiple hamartomatosis |
| Bannayan-Zonana sindrome di | Bannayan-Zonana syndrome |
| BirtHoggDubè sindrome di | BirtHoggDub's syndrome |
| Complesso di Von Meyenburg | Von Meyenburg complex |
| Cowden malattia di | Cowden's disease |
| Sclerosi tuberosa | Tuberous sclerosis |
| Peutz-J eghers sindrome di | Peutz-J eghers syndrome |
| Sturge-Weber sindrome di | Sturge-Weber syndrome |
| Von Hippel-Lindau sindrome di | Von Hippel-Lindau syndrome |
| Sindrome proteus | Proteus syndrome |
| Angelman sindrome di | Angelman syndrome |
| Associazione VACTERL/VATER | VACTERL/VATER association |
| Bardet-Biedl sindrome di | Bardet-Biedl syndrome |
| Bloom sindrome di | Bloom syndrome |
| Borjeson-Forssman-Lehmann sindrome di | Borjeson-Forssman-Lehmann syndrome |
| Char sindrome di | Char syndrome |
| Coffin-Lowry sindrome di | Coffin-Lowry syndrome |
| Coffin-Siris sindrome di | Coffin-Siris syndrome |
| Cohen sindrome di | Cohen syndrome |
| Cornelia De Lange sindrome di | Cornelia De Lange Syndrome |
| Costello sindrome di | Costello syndrome |
| Noonan sindrome di | Noonan syndrome |
| Sindrome cardiofaciocutanea | Cardiofaciocutaneous syndrome |
| Leopard sindrome | Leopard syndrome |
| De Sanctis Cacchione malattia di | De Sanctis Cacchione disease of |
| Displasia oculo-digito-dentale | Oculo-digital-dental dysplasia |
| Filippi sindrome di | Philippi syndrome |
| Sindrome FG | FG syndrome |
| Fine-Lubinsky sindrome di | Fine-Lubinsky syndrome |
| Fryns sindrome di | Fryns syndrome |
| Hermansky-Pudlak sindrome di | Hermansky-Pudlak syndrome |
| Holt-Oram sindrome di | Holt-Oram syndrome |
| LevyHollister sindrome di | LevyHollister syndrome |
| Lowe sindrome di | Lowe syndrome |
| Mainzer-Saldino sindrome di | Mainzer-Saldino syndrome |
| Marshall sindrome di | Marshall syndrome |
| Opitz sindrome di | Opitz syndrome |
| Pallister-Hall sindrome di | Pallister-Hall syndrome |
| Pallister-W sindrome di | Pallister-W syndrome |
| Parry-Romberg sindrome di | Parry-Romberg syndrome |
| Prader-Willi sindrome di | Prader-Willi syndrome |
| Rubinstein-Taybi sindrome di | Rubinstein-Taybi syndrome |
| Sindrome branchio-oculo-facciale | Branchio-oculo-facial syndrome |
| Sindrome branchio-oto-renale | Branchio-oto-renal syndrome |
| Sindrome cardiofacciale di Cayler | Cayler's cardiofacial syndrome |
| Sindrome cerebrocostomandibolare | Cerebrocostomandibular syndrome |
| Sindrome cerebrooculo-facio-scheletrica | Cerebrooculofacioskeletal syndrome |
| CHARGE associazione | CHARGE association |
| Sindrome Kabuki | Kabuki syndrome |
| Sindrome megalocornea-ritardo mentale | Megalocornea-mental retardation syndrome |
| Sindrome nail-patella | Nail-patella syndrome |
| Sindrome oculo-cerebro-cutanea | Oculocerebrocutaneous syndrome |
| Sindromi progeroidi | Progeroid syndromes |
| Hutchinson-Gilford sindrome di | Hutchinson-Gilford syndrome |
| Poichiloderma congenito | Congenital poikiloderma |
| Wiedemann-Rautenstrauch sindrome di | Wiedemann-Rautenstrauch syndrome |
| Werner sindrome di | Werner syndrome |
| Cockayne sindrome di | Cockayne syndrome |
| Sindrome tricorino-falangea | Trichorinophalangeal syndrome |
| Smith-Magenis sindrome di | Smith-Magenis syndrome |
| Townes-Brocks sindrome di | Townes-Brocks syndrome |
| Sindromi di Waardenburg | Waardenburg syndromes |
| Waandenburg tipo 1 sindrome di | Waandenburg type 1 syndrome |
| Waandenburg tipo 2 sindrome di | Waandenburg type 2 syndrome |
| Waandenburg tipo 3 sindrome di | Waandenburg type 3 syndrome |
| Wildervanck sindrome di | Wildervanck syndrome |
| Winchester sindrome di | Winchester syndrome |
| Wolfram sindrome di | Wolfram syndrome |
