Opitz C trigonocephaly syndrome and midline brain anomalies

We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo‐labial frenula, short neck, hip “dysplasia,” equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental re...

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Veröffentlicht in:	American journal of medical genetics 1997-12, Vol.73 (4), p.484-488
Hauptverfasser:	Zampino, Giuseppe, Di Rocco, Concezio, Butera, Gianfranco, Balducci, Francesca, Colosimo, Cesare, Torrioli, Maria Giulia, Mastroiacovo, Pierpaolo
Format:	Artikel
Sprache:	eng
Schlagworte:	Agenesis of Corpus Callosum Biological and medical sciences Brain - abnormalities Brain - pathology C syndrome Child, Preschool Complex syndromes corpus callosum agenesis Craniofacial Abnormalities - genetics craniosynostosis Cryptorchidism - genetics Dandy-Walker malformation Dandy-Walker Syndrome - pathology Developmental Disabilities - genetics Female Fingers - abnormalities Humans Infant, Newborn Magnetic Resonance Imaging Male Medical genetics Medical sciences mental retardation midline developmental field Pregnancy Syndrome trigonocephaly
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