Schinzel-Giedion Syndrome

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 resulting in significant learning disabilities and impaired organization of movements.

Pallister Syndrome (Ulna-Mammary Syndrome type Pallister): A syndrome of abnormal development of the ulna, forearms, mammary glands, axillary apocrine glands, teeth, palate, and vertebral and urogenital systems. Absence of body odor and axillary sweating, absence of breast tissue, and hypoplasia of nipples and areolas. Both sexes affected equally. Autosomal dominant inheritance.