Van Maldergem syndrome: Further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

European Journal of Human Genetics

Volumn 20, Issue 10, 2012, Pages 1024-1031

  Mansour, Sahar ^a   Swinkels, Marielle ^b   Terhal, Paulien A ^b   Wilson, Louise C ^c   Rich, Philip ^a   Van Maldergem, Lionel ^d   Zwijnenburg, Petra J G ^e   Hall, Christine M ^f   Robertson, Stephen P ^g   Newbury Ecob, Ruth ^h  

^a ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF OTAGO   (New Zealand)

^h ST MICHAEL'S HOSPITAL   (United Kingdom)

Author keywords

autosomal recessive; bilateral periventricular nodular heterotopia; blepharo naso facial malformation; camptodactyly; choanal atresia; migration abnormalities

Indexed keywords

ADULT; ARTICLE; ASSISTED VENTILATION; ATRESIA; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; BLEPHAROPHIMOSIS; CAMPTODACTYLY; CELL MIGRATION; CLINICAL ARTICLE; CONSANGUINITY; EXTERNAL AUDITORY CANAL; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; HAND MALFORMATION; HEARING LOSS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; KYPHOSCOLIOSIS; LEARNING DISORDER; LUNG HYPOPLASIA; MALE; MAXILLA HYPOPLASIA; MICROTIA; MUSCLE HYPOTONIA; NERVE CELL; NEURONAL MIGRATION DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RECURRENT DISEASE; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; SCOLIOSIS; SIBLING; SKELETON MALFORMATION; SPONDYLOSIS; STOMACH FUNDOPLICATION; TELECANTHUS; TRACHEOMALACIA; TRACHEOSTOMY; VAN MALDERGEM SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; JOINT INSTABILITY; KARYOTYPE; MALE; NEURONAL MIGRATION DISORDERS; PEDIGREE;

NASO;

EID: 84866542300     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.57     Document Type: Article

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