Document Detail

Opitz C trigonocephaly syndrome and midline brain anomalies.
MedLine Citation:
PMID:  9415479     Owner:  NLM     Status:  MEDLINE    
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.
G Zampino; C Di Rocco; G Butera; F Balducci; C Colosimo; M G Torrioli; P Mastroiacovo
Related Documents :
18629769 - Jarcho-levin syndrome presenting with diaphragmatic hernia.
8839719 - Abnormal cholesterol biosynthesis in the smith-lemli-opitz and the lethal acrodysgenita...
21109139 - Lowe's syndrome with fanconi syndrome for ocular surgery: perioperative anesthetic cons...
10592069 - A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized...
16198889 - Lutembacher's syndrome with small atrial septal defect diagnosed by transthoracic and t...
23197199 - Mycosis fungoides and sézary syndrome: clinical, histopathological and immunohistochemi...
15493739 - Digeorge syndrome with truncus arteriosus: report of one case.
17014649 - Inflammatory peeling skin syndrome studied with electron microscopy.
20967839 - Helmet-delivered heliox-cpap in severe upper airway obstruction caused by phaces syndrome.
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  73     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Dec 
Date Detail:
Created Date:  1998-02-02     Completed Date:  1998-02-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  484-8     Citation Subset:  IM    
Istituto di Pediatria, Facoltà di Medicina A. Gemelli, Università Cattolica, Rome, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Brain / abnormalities*,  pathology*
Child, Preschool
Corpus Callosum / abnormalities
Craniofacial Abnormalities / genetics*
Cryptorchidism / genetics
Dandy-Walker Syndrome / pathology
Developmental Disabilities / genetics
Fingers / abnormalities
Infant, Newborn
Magnetic Resonance Imaging

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.
Next Document:  Homeobox genes from clusters A and B demonstrate characteristics of temporal colinearity and differe...