A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 638-641

  Aypar, Ebru ^a   Yildirim, M Selman ^b   Sert, Ahmet ^a   Ciftci, Ilhan ^c   Odabas, Dursun ^a  

^a Konya Research and Training Hospital   (Turkey)

^b SELCUK UNIVERSITY   (Turkey)

^c NONE   (Turkey)

Author keywords

Metopic synostosis; Mosaic trisomy 13; Trigonocephaly; Trisomy 13

Indexed keywords

ANKYLOGLOSSIA; ARTICLE; CAPILLARY HEMANGIOMA; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; ECHOCARDIOGRAPHY; EPICANTHUS; FEMALE; GLOSSECTOMY; HEART ATRIUM SEPTUM DEFECT; HEART VALVE PROLAPSE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOTELORISM; INFANT; INFANTILE HYPOTONIA; MENTAL DISEASE; METOPIC SYNOSTOSIS; MICROGNATHIA; NEUROLOGIC EXAMINATION; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PALPEBRAL FISSURE ANOMALY; PATAU SYNDROME; PRIORITY JOURNAL; SEPTUM PELLUCIDUM; SKULL RADIOGRAPHY; SURGICAL MORTALITY; SYNOSTOSIS; TRICUSPID VALVE DISEASE; TRIGONOCEPHALY;

ADULT; CHROMOSOMES, HUMAN, PAIR 13; CRANIOSYNOSTOSES; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MOSAICISM; PREGNANCY; TRISOMY;

EID: 79951994329     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33839     Document Type: Article

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