A rare polymalformative syndrome characterized by a
triangular-shaped head that is already present at birth, combined with cardiac,
digestive, and skeletal anomalies.
Opitz Trigonocephaly Syndrome; Trigonocephaly “C”
Syndrome; Trigonocephaly Syndrome. (“C” in the name of this syndrome
refers to the initial of one of the first patients originally described by
First described in 1969 by J.M. Opitz, a contemporary
Approximately 40 cases have been described in the
Most likely autosomal recessive inheritance.
Unknown; malformation of the head is a result of
premature union of the skull bones.
Based on clinical findings of skull malformation
combined with peculiar facies (narrow, pointed forehead, flat and broad
nasal bridge with a short nose, epicanthus) and multiple cardiac, digestive,
and skeletal anomalies.
These patients present with short stature, skin
laxity, and failure to thrive (generalized hypotonia and poor sucking
reflex). The main features involve the head and neck (short neck,
trigonocephaly, biparietal widening of the head, metopic craniosynostosis,
microcephaly, agenesis of the corpus callosum, micrognathia, low-set and
posteriorly rotated ears, epicanthal folds, upward slanted palpebral
fissures, strabismus, anteverted nares, flat and broad nasal bridge, short
nose, high arched and deeply furrowed palate, oral frenula, thick anterior
alveolar ridges, macrostomia); the central nervous system (hypotonia,
seizures, psychomotor retardation); the heart (tetralogy of Fallot,
ventricular septal defect, patent ductus arteriosus, Eisenmenger syndrome);
the lungs (abnormal segmentation of the lungs); the gastrointestinal system
(visceral angiomatosis, omphalocele, hepatomegaly); the genitourinary tract
(prominent clitoris and labia majora, cryptorchidism, renal cortical cysts,
hydronephrosis); and the skeleton (hyperextensible joints, fused sternal
ossification centers, scoliosis, anomalous ribs, radial head dislocation,
postaxial polydactyly, clinodactyly, terminal transverse limb reduction,
metacarpal hypoplasia, hip dislocation). Clotting disorders and abnormally placed nipples are frequent findings.
Approximately half of the patients die within the first year of life.
Evaluate neurologic function
(clinically, electroencephalography, computed tomography scanning, and/or
magnetic resonance imaging). Check cardiac function (clinically,
echocardiography, chest radiography, electrocardiography, and/or cardiac
catheterization if necessary). Assess for signs of difficult airway
management and evaluate respiratory function secondary to anomalies of the
chest, skeleton, and abdominal muscles (clinically, pulmonary function test,
chest radiography, and arterial blood gases analysis). Check kidney and
liver function (clinically, sonography, laboratory tests). Preoperative
laboratory investigation should include a complete blood count,
electrolytes, creatinine, blood urea nitrogen, and coagulation tests.
Postoperative mechanical ventilation may be necessary and should be arranged
Airway management may be difficult due
to micrognathia and short neck and may require adapted anesthetic techniques
such as primary fiberoptic tracheal intubation or intubation through a
laryngeal mask (blind or with fiberoptic guidance). Joint laxity and
preexisting dislocations require careful intraoperative positioning.
Regional anesthesia is not contraindicated, but can be difficult to realize
due to skeletal abnormalities and should be done only if coagulation status
and platelet count are within normal limits.
Consider interaction between
antiepileptic and ...