Opitz C trigonocephaly syndrome and midline brain anomalies

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.

Opitz trigonocephaly C syndrome associated with hearing loss

“…To our knowledge, our patient seems to be the only case having status epilepticus, although some other cases have had seizures. [5][6][7] As defined in the other reports, we also found central nervous system abnormalities, such as agenesis of the corpus callosum, cerebral atrophy and ventriculomegaly on MRI. 5,6,8 In 1997, Sabry et al .…”

“…9 and Zampino et al . 6 did not discuss the pathogenesis and localization of the hearing problem in their papers. We determined the extension in latency of wave I and interpeak latency of waves I-V in the left ear.…”

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

“…Our patient had many of the clinical and anatomic findings typical of OTCS: the dysmorphic face, white matter alteration, as described by Lalatta [4] and by Azimi [5], cerebral hemorrhage [3] and hearing loss as reported by Nacarkucuk et al [6] and Zampino et al [7]. …”

A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndrome

“…This boy has many findings of the Opitz syndrome with trigonocephaly, up‐slanting palpebral fissures, epicanthal folds, cardiac abnormality, and cryptorchidism. His in utero course included other findings that have been described: omphalocele (resolved at birth [Lalatta et al, 1990; Cabral de Almeida et al, 1992]) and absent corpus callosum [Glickstein et al, 1995; Zampino et al, 1997]. Ear abnormalities, although not attached as in his case, have been described [Haaf et al, 1991].…”