A second family with blepharo-naso-facial syndrome

Clinical Dysmorphology

Volumn 11, Issue 3, 2002, Pages 191-194

  Allanson, Judith E ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Blepharophimosis; Lacrimal apparatus anomaly; Mask like facies; Telecanthus

Indexed keywords

ARTICLE; BLEPHARONASOFACIAL SYNDROME; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FACIAL EXPRESSION; FINGER MALFORMATION; GENE MUTATION; HUMAN; LACRIMAL DUCT OCCLUSION; MALE; PRIORITY JOURNAL; SKINFOLD; TELECANTHUS; ADULT; CONGENITAL MALFORMATION; EYELID; FACE; FEMALE; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NOSE; PRESCHOOL CHILD; SYNDROME;

DNA BINDING PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; PAX3 PROTEIN, HUMAN; PAX3 PROTEIN, MOUSE; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; EYELIDS; FACE; FEMALE; HUMANS; MALE; MUTATION; NOSE; PAIRED BOX TRANSCRIPTION FACTORS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0036018125     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200207000-00008     Document Type: Article

References (5)

1. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
2. A family with blepharo-naso-facial malformations
3. Eye findings in the blepharo-naso-facial malformation syndrome
4. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness
5. Nablus mask-like facial syndrome