Opitz C trigonocephaly syndrome and midline brain anomalies

Giuseppe Zampino, Cesare Colosimo, Concezio Di Rocco, Maria Giulia Torrioli, Pierpaolo Mastroiacovo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

13 Citazioni (Scopus)

Abstract

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 retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.
Lingua originaleEnglish
pagine (da-a)484-488
Numero di pagine5
RivistaAmerican Journal of Medical Genetics
Volume73
Stato di pubblicazionePubblicato - 1997

Keywords

  • Agenesis of Corpus Callosum
  • Brain
  • Child, Preschool
  • Craniofacial Abnormalities
  • Cryptorchidism
  • Dandy-Walker Syndrome
  • Developmental Disabilities
  • Female
  • Fingers
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Pregnancy
  • Syndrome

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