A new autosomal recessive oto-facial syndrome with midline malformations

American Journal of Medical Genetics

Volumn 132 A, Issue 4, 2005, Pages 398-401

  Mégarbané, André ^a,c   Chouery, Eliane ^a   Rassi, Simon ^b   Delague, Valérie ^a  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c Saint Joseph University   (France)

Author keywords

Cleft palate; Conductive hearing loss; Ear; Esophageal atresia; Microcephaly; Microtia; Short stature

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; CASE REPORT; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; CONSANGUINITY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; EPICANTHUS; ESOPHAGUS ATRESIA; FACE MALFORMATION; FEMALE; FRONTAL BOSSING; HUMAN; INNER EAR MALFORMATION; LEBANON; MICROCEPHALY; MICROTIA; OTOFACIAL SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROGNATHIA; SCHOOL CHILD; SHORT STATURE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CLEFT PALATE; CONSANGUINITY; EAR; ESOPHAGEAL ATRESIA; FACE; FACIAL BONES; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; SYNDROME; TEMPORAL BONE;

MICROTIA;

EID: 12944252965     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30479     Document Type: Article

References (8)

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