Genetic disorder resulting in anomalies of branchial
arch, skeleton, and genitalia.
BSG Syndrome; El Sahy-Waters Syndrome.
Unknown. Only one case report of three boys from a
Presumed autosomal recessive trait. All the
affected brothers were offspring of a first-cousin couple in a family
pedigree with a history of consanguinity. Variable expression of the
syndrome is thought to occur, as two other siblings had mental retardation,
but no other features of the condition.
Several laboratory investigations to determine the
nature of the chromosomal or metabolic errors failed to delineate a cause.
Histologic and radiologic analysis of the dental cysts showed they were
dentigerous (an odontogenic cyst surrounding the crown of an impacted tooth).
Teeth from these patients had an unusual form of dentine
dysplasia, mainly affecting the bulbar areas, which had not been described
Clinical course, morphologic appearance, radiology of
mandible and maxilla (with multiple dental cysts), and oral histopathology
of teeth (abnormal dentine dysplasia).
Features include mental retardation, seizures,
brachycephalic skull, cervical fusion between second and third vertebrae,
Schmorl nodes (i.e., herniations of the intervertebral disc through the
vertebral endplate) in the lumber area, pectus excavatum, and penoscrotal
hypospadias. Children have class III malocclusions with hypoplasia of the
maxilla resulting in relative mandibular prognathism, a bifid uvula or
partial cleft palate. Multiple dental cysts are present in the maxilla and
mandible with misalignment of all the teeth of the upper jaw. Nasal bones
are broad and flat, with a wide nasal tip and flared alar cartilages. All
patients had hypertelorism, nystagmus of the right eye on right and left
gaze, and divergent strabismus and slight ptosis of the right eye.
Incomplete expression of the syndrome may be associated with mental
retardation, but normal morphology.
Obtain a full history of problems
associated with the syndrome: mental retardation (sedative premedication may
be advantageous), seizures (anticonvulsant therapy and efficacy), and degree
of pectus excavatum. Evaluate the airway for potential difficulties (poor
dentition, limited neck mobility, class III malocclusion, cleft palate).
Consider anticholinergic premedication to decrease airway secretions if
fiberoptic intubation is planned. Obtain a complete blood count.
If difficult airway management is
anticipated, an awake fiberoptic tracheal intubation (mental retardation may
reduce cooperation) or inhalational induction with maintained spontaneous ventilation
should be considered. Regional
anesthesia techniques can be used, especially for urologic procedures,
provided no other specific contraindications are present (e.g.,
thrombocytopenia in patients taking sodium valproate).
Muscle relaxants should be avoided
until the airway has been secured.
Avoid potentially epileptogenic drugs such as methohexital, ketamine, and
enflurane. Sodium valproate may cause hepatic dysfunction, thrombocytopenia,
and pancreatitis. Several of the commonly used anticonvulsant agents can
cause sedation and hepatic enzyme induction resulting in altered pharmacokinetic and
pharmacodynamic responses to various anesthetic agents. Patients receiving
anticonvulsant medication should be continued on their regimen until
surgery, and medications ...