MEETINGS ON CLINICAL GENETICS SIGU (Italian Society of Human Genetics)

In nero ipotesi diagnostica In rosso ipotesi confermata

CASO
3-C s.?	1
Aarskog s.?	1	2	3
Acrocallosal s.?	1
Adrenoleukodystrophy	1
Adult s.?	1
Albright Hereditary osteodystrophy?	1
Alopecia, MR	1
Alstrom s.?	1
Angelman s.?	1	2	3	4	5	6	7
Anticonvulsive fetal s.?	1
Arterial Tortuosity s.?	1
ATRX ?	1
Baraitser s.?	1
Barraquer-Simons s.?	1
Bawle s.?	1
Beals s.?	1
Beckwith-Wiedemann s.?	1
BFL s.?	1
Bilateral tibial hemimelia	1
Binder s.?	1
Blepharophimosis-ID s.?	1
Blau s.?	1
BPES s.?	1	2
Campomelic dysplasia?	1
Cantu s.?	1
CFC s.?	1	2	3
CHARGE a.?	1	2
CHARGE/VACTERL	1
Chromosomal abnormality?	1
Chromosomal/genomic anomaly?	1
Chromosomal instability?	1
Cleidocranial Dysostosis	1
Cockaine s.?	1
Coffin-Lowry male s.?	1	2	3
Coffin-Lowry female s.?	1	2	3
Coffin-Siris s.?	1	2
Cohen?	1	2	3	4	5	6	7	8	9	10
Cooks s.?	1
Cornelia De Lange s.?	1
Costello s.?	1	2
COX deficit?	1
Cranio-cerebello-cardiac s.?	1
Cumming s.?	1
Craniofrontonasal dysplasia	1
De Lange s.?	1	2	3
Deafness, microcephaly, limbs defect	1
Desbuqois Chondrodystrophy s.?	1
Disorder of DNA repair?	1
Donnai-Barrow s.?	1
Dubowitz s.?	1
Ectodermal dysplasia?	1	2	3
Ehler-Danlos type VI?	1
Facio-auricolo-thoracic s.?	1
Fetal Alcohol s.?	1
Fine- Lubinski ?	1
FG s.?	1	2
Floating-Harbor s.?	1	2
Freeman-Sheldon s.?	1
Frontoparietal bilateral polymicrogyria	1
Fryns s.?	1
FSHD ?	1
Geleophysic dysplasia	1
Geroderma osteodysplasticum?	1	2
Goldberg-Shprintzen s.?	1
Goldenhar s.?	1	2
Goltz-Gorlin s.?	1
Hennekam Lymphagiectasia-lymphedema s.?	1
Holt-Oram s.?	1	2
Hyper-phenylalaninemia	1
Infantile Neuroaxonal Dystrophy	1
Kabuki make-up s.?	1	2	3	4	5	6	7	8	9
Kallmann s. and XL ichthyosis?	1
Lowe s.?	1
Lowry-Wood s.?	1
Luyan-Fryns s.?	1
Lypodystrophy?	1	2	3
Macrocephaly-Subdural Hemorrhage	1
Macrocephaly-MR	1
Mandibuloacral dysplasia?	1
Malpuech s.?	1	2
Marden-Walker s.?	1
Marinesco-Sjogren s.?	1
Marshall Stickler s.?	1
MCA/MR	1	2	3
Melnick-Needles s.?	1
Microcephaly-Blepharophimosis	1
Microcephaly-MR	1
Microdeletion 16q24.2	1
Microduplication 17p11.2	1
Microftalmia	1	2
Miopatia	1
Moebius s.?	1
Mowat-Wilson s.?	1	2	3	4	5
MR	1
MR and dysmorphisms in brothers	1
MR and epilepsy	1
MR and pachigiria	1
MR and self-injurious behavior	1
Multiple pterigium and  arthrogryposis s.	1
Mulvihill-Smith s.?	1
Myhre s.?	1
Nager s.?	1
Nail-Patella s.?	1
Nance-Horan s. ?	1
Neuhauser s.?	1
Nevo s.?	1
NF1/Carney complex	1
Nicolaides-Baraitser s.?	1
Njimegen-like s.?	1
Noonan s.?	1	2	3	4	5
Noonan phenotype	1	2
Norman-Roberts s.?	1
OEIS	1
OFD type IX	1
Ohdo-blepharophimosis s.?	1
Ohdo s.?	1
Okihiro s.?	1	2
Opitz s.?	1
Overgrowth s.?	1	2
Pitt-Hopkins s.?	1	2	3
Pitt-Hopkins like?	1
Poland-Spettro OAV?	1
Prader-Willi s.?	1	2
Proteus s. ?	1	2
Proximal symphalangism?	1
Psychomotor retardation and minor craniofacial anomalies	1
Radiohumeral synostisis	1
Rett s.?	1
Roberts s.?	1
Rothmund-Thomson s.?	1
Rubinstein-Taybi s.?	1	2	3	4
Seckel s.?	1	2
SHORT s.?	1
Short-rib polydactyly	1
Short stature and developmental delay	1
Silver-Russel s.?	1	2
Silver Russell s. and cystic fibrosis?	1
Simpson-Golabi-Behmel s.?	1	2
Situs inversus and cystic and pancreatic dysplasia	1
Skeletal dysplasia	1	2	3
Smith-Fineman-Myers s. ?	1
Smith-Magenis s.?	1	2	3	4	5	6
Sotos?	1	2
Star s. Plus?	1
Teebi hypertelorism s.?	1
Ter Haar s.?	1
Townes-Brocks S.?	1
Treacher-Colins s.?	1
Trichorhinophalangeal s. ?	1
Trigonocephaly, DIA, MR	1
Urorectal septal defect	1
Vacterl s.?	1
Varadi-Papp s.?	1
VATER Association, CHARGE Association?	1
Waardenburg ophthalmo-acromelic	1
Weill-Marchesani s.?	1
Wiedeman-Steiner s.?	1
Williams s.?	1	2
X-linked Recessive Chondrodysplasia Punctata?	1
XLMR?	1