A distinct dysmorphic syndrome of congenital
hydronephrosis, skeletal dysplasia (open cranial sutures, steep short skull,
wide occipital synchondrosis) and severe developmental retardation. Coarse
facies characterized by midface retraction, bulging forehead, facial
hemangiomas, short nose with anteverted nostrils, protruding large tongue,
and hypertelorism. Patient usually dies during infancy.
Schinzel-Giedion Midface-Retraction Syndrome.
Probably autosomal recessive.
Craniofacial: midface retraction, large fon-
tanelles, hypertelorism, low-set ears, choanal stenosis, macroglossia, short, broad
neck; hair: hypertrichosis; skin: facial telangiectasia, dermal ridge
hypoplasia, narrow nails; cardiac: atrial septal defect, other cardiac
defects; neurological: seizure, spasticity, developmental delay, cerebral atrophy;
renal: hydronephrosis, hydroureter; skeletal: hypoplastic ribs and broad
ribs, postaxial polydactyly, mesomelic brachymelia, hypoplastic distal phalanges,
hyperdense long tubular bone, broad ribs, clubbed feet, polysyndactyly; growth:
growth retardation. Affected patients usually die in early neonatal or infancy period.
Assess for potential airway
difficulty with presence of choanal stenosis, midface retraction, large
tongue, short neck. The cardiac function must be assessed for possible congenital heart
defect with the aid of physical examination, ECG, chest radiograph, and echocardiogram.
A complete evaluation of the respiratory function for evidence of respiratory failure
must be obtained through a complete physical, chest radiograph, and blood gas
analysis if indicated.
There are no anesthesia reports because of the
early lethality. The airway should be assessed for difficult tracheal intubation
and ventilation. Avoid nasal intubation if choanal stenosis is suspected. Nasal
or facial surgery may lead to further upper airway compromise. Respiratory
complication is frequent with pneumonia and upper airway obstruction. Intravenous
access may be difficult with abnormal joint position.
Anticonvulsant drugs should be
continued throughout perioperative period. Drugs used should be tailored
according to the cardiac and respiratory functions. Precautions for cardiac
defect should include prophylactic antibiotics, avoidance of air embolism,
and adequate rehydration.
Aicardi Syndrome: A rare disorder characterized by
partial or complete agenesis of the corpus callosum, infantile spasms
(spasm-like epilepsy), mental retardation, and an ocular abnormality called
lacunae of the retina. Often associated with other features such as
microcephaly and porencephalic cysts. The onset is generally between the age
of 3 and 5 months. The disorder affects only females.
West Syndrome: A disorder characterized by the triad of
infantile spasms, an interictal EEG pattern termed hypsarrhythmia, and
mental retardation. This severe epilepsy syndrome is an age-dependent
expression of a significantly damaged brain. It was the English physician
W.J. West in 1841 who provided the first description of this bizarre epilepsy
pattern, which he found in his own child. He described the pattern as
“bobbings” causing a complete heaving of the head forward and toward the
knees, then followed by immediate relaxation into the upright position.
Repetitive in few seconds, 10 to 20 times at each attack, however continuing
for no more than 2 to 3 minutes, 3 or more times a day.
Lennox-Gastaut Syndrome: Severe form of epilepsy ...