Delineation and diagnostic criteria of oral-facial-digital syndrome type VI

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Poretti, Andrea ^a,b   Vitiello, Giuseppina ^c   Hennekam, Raoul C M ^d   Arrigoni, Filippo ^e   Bertini, Enrico ^f   Borgatti, Renato ^e   Brancati, Francesco ^c,g   D'Arrigo, Stefano ^h   Faravelli, Francesca ⁱ   Giordano, Lucio ^j   Huisman, Thierry A G M ^b   Iannicelli, Miriam ^c   Kluger, Gerhard ^k,l   Kyllerman, Marten ^m   Landgren, Magnus ⁿ   Lees, Melissa M ^o   Pinelli, Lorenzo ^j   Romaniello, Romina ^e   Scheer, Ianina ^a   Schwarz, Christoph E ^p   Spiegel, Ronen ^q   Tibussek, Daniel ^r   Valente, Enza Maria ^c,s   Boltshauser, Eugen ^a   more..

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e SCIENTIFIC INSTITUTE   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF CHIETI   (Italy)

^h DEPARTMENT OF NEUROSURGERY   (Italy)

ⁱ GALLIERA HOSPITAL   (Italy)

^j SPEDALI CIVILI   (Italy)

^k Epilepsy Center   (Germany)

^l PARACELSUS MEDICAL UNIVERSITY   (Austria)

^m QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

ⁿ SKARABORG HOSPITAL   (Sweden)

^o GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^p UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^q HAEMEK MEDICAL CENTER   (Israel)

^r UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^s UNIVERSITY OF MESSINA   (Italy)

more..

Author keywords

cerebellar malformation; Joubert syndrome and related disorders; neuroimaging; molar tooth sign; Oral facial digital syndrome type VI

Indexed keywords

APNEA; ARTICLE; BRAIN SIZE; BRAIN STEM; BRAIN VENTRICLE DILATATION; CEREBELLUM; CEREBELLUM VERMIS; CEREBROSPINAL FLUID; CHILD; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; COLOBOMA; CRANIOFACIAL MORPHOLOGY; DENTAL CARIES; DISEASE SEVERITY; DYSOSTOSIS; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HAMARTOMA; HEMISPHERE; HUMAN; HYPOPLASIA; MALE; MEDULLA OBLONGATA; MESENCEPHALON; MOTOR DEVELOPMENT; NERVE CELL DIFFERENTIATION; NEUROIMAGING; NOSE SEPTUM; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PONS; POSTERIOR FOSSA; RESUSCITATION; SUPERIOR CEREBELLAR PEDUNCLE; THALAMUS; TONGUE DISEASE; UPPER LIP; ADOLESCENT; ADULT; CEREBELLUM DISEASE; CLASSIFICATION; CONGENITAL MALFORMATION; EYE MALFORMATION; GENETICS; INFANT; KIDNEY POLYCYSTIC DISEASE; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; RETINA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MALE; NEUROIMAGING; OROFACIODIGITAL SYNDROMES; PHENOTYPE; POLYDACTYLY; RETINA; YOUNG ADULT;

EID: 84855582627     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-4     Document Type: Article

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