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.
| Original language | English |
|---|---|
| Pages (from-to) | 484-488 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 73 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Dec 31 1997 |
Fingerprint
Keywords
- C syndrome
- Corpus callosum agenesis
- Craniosynostosis
- Dandy-Walker malformation
- Mental retardation
- Midline developmental field
- Trigonocephaly
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Opitz C trigonocephaly syndrome and midline brain anomalies. / Zampino, Giuseppe; Di Rocco, Concezio; Butera, Gianfranco; Balducci, Francesca; Colosimo, Cesare; Torrioli, Maria Giulia; Mastroiacovo, Pierpaolo.
In: American Journal of Medical Genetics, Vol. 73, No. 4, 31.12.1997, p. 484-488.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Opitz C trigonocephaly syndrome and midline brain anomalies
AU - Zampino, Giuseppe
AU - Di Rocco, Concezio
AU - Butera, Gianfranco
AU - Balducci, Francesca
AU - Colosimo, Cesare
AU - Torrioli, Maria Giulia
AU - Mastroiacovo, Pierpaolo
PY - 1997/12/31
Y1 - 1997/12/31
N2 - 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.
AB - 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.
KW - C syndrome
KW - Corpus callosum agenesis
KW - Craniosynostosis
KW - Dandy-Walker malformation
KW - Mental retardation
KW - Midline developmental field
KW - Trigonocephaly
UR - http://www.scopus.com/inward/record.url?scp=0030732209&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030732209&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19971231)73:4<484::AID-AJMG20>3.0.CO;2-M
DO - 10.1002/(SICI)1096-8628(19971231)73:4<484::AID-AJMG20>3.0.CO;2-M
M3 - Article
C2 - 9415479
AN - SCOPUS:0030732209
VL - 73
SP - 484
EP - 488
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -