Blepharophimosis-ptosis-epicanthus inversus syndrome plus: Deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay

Clinical Dysmorphology

Volumn 21, Issue 1, 2012, Pages 48-52

  Zahanova, Stacy ^a   Meaney, Brandon ^b   Łabieniec, Beata ^d   Verdin, Hannah ^e   De Baere, Elfride ^e   Nowaczyk, Małgorzata J M ^b,c  

^a MCMASTER UNIVERSITY   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^d JAGIELLONIAN UNIVERSITY   (Poland)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANTEVERTED NOSTRIL; ARTICLE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; CEREBRAL PALSY; CHILD; CHORDEE; CHROMOSOME 3Q; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; EPICANTHUS; EYE MALFORMATION; FACIAL NERVE PARALYSIS; FACIES; GENITAL MALFORMATION; HUMAN; LOW SET EAR; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; PTOSIS; SPASTIC PARESIS; SPEECH DISORDER; SPEECH THERAPY; TELECANTHUS; WOUND HEALING IMPAIRMENT;

BLEPHAROPHIMOSIS; CEREBRAL PALSY; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; DEVELOPMENTAL DISABILITIES; EYELIDS; FACIES; FORKHEAD TRANSCRIPTION FACTORS; GENES, DOMINANT; GENITALIA, MALE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; SKIN ABNORMALITIES;

EID: 83255185104     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834977f1     Document Type: Article

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