Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

American Journal of Medical Genetics

Volumn 62, Issue 3, 1996, Pages 293-296

  Zampino, Giuseppe ^a   Conti, Guido ^a   Balducci, Francesca ^a   Moschini, Massimo ^a   Macchiaiolo, Marina ^a   Mastroiacovo, Pierpaolo ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

brain defect; cranio carpo tarsal dysplasia; Freeman Sheldon syndrome; hearing loss; whistling face syndrome

Indexed keywords

ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FACE MALFORMATION; GENETIC HETEROGENEITY; HEARING LOSS; HUMAN; MALE; MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; SYNDROME DELINEATION;

ADULT; ARTHROGRYPOSIS; BRAIN; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FACE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; RESPIRATORY TRACT DISEASES; TOMOGRAPHY SCANNERS, X-RAY COMPUTED;

EID: 0029914666     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<293::AID-AJMG17>3.0.CO;2-F     Document Type: Article

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