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Rare form of anterior segment dysgenesis of the eye associated with endocrine disorders, cerebral malformation, and tracheal stenosis.

Anterior Chamber Cleavage Disorder; Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis.

Extremely rare; case report of only two patients: an unrelated boy and girl. Autosomal recessive inheritance. Questionable relationship to Peters-plus syndrome because of similar ocular abnormalities.

Both children had cerebellar hypoplasia (with Dandy-Walker malformation in the boy), hypotonia, and mental retardation. Microcephaly with a round face and broad nasal ridge, thick scalp hair with low hairline, short neck, narrow external auditory meatus, hip dysplasia, short feet, and fusion of the lower incisors were present in both patients. Tracheal stenosis was common to both; however, chronic inflammatory lung disease and abnormal vertebral shape were listed as frequent signs only; thus they probably occurred in one of the two patients. Growth hormone deficiency and congenital hypothyroidism occurred in both children. The presence of anterior chamber cleavage disorder (plus a coloboma of the right iris in the female) prompted the possible association with Peters-plus syndrome. The girl had a “shield” thorax and the boy had hypoplasia of the penis. The boy died at age 3.5 years. No mention was made of the girl's outcome.

No reports related to anesthetic management were found. Recommendations include screening for tracheal stenosis (stridor and/or wheeze, tachypnea, indrawing, cyanosis, chest radiograph, CT scan) and hypothyroidism (thyroid-stimulating hormone, T3/T4 levels). Narrow nasal passages may make nasal intubation difficult. Always consider difficulties with airway management if craniofacial abnormalities are present and tracheal stenosis. Difficulty maintaining patency of trachea if dynamic stenosis; consider maintaining spontaneous ventilation and avoiding muscle relaxants until trachea is intubated and lung ventilation confirmed. Smaller endotracheal tube may be required. May be prone to postoperative edema at site of stenosis if the endotracheal tube inserted was too tight. Correction of hypothyroidism prior to anesthesia is ideal. In case of an emergency and if suspicion of hypothyroidism is high, a suggested strategy is to draw blood for thyroid hormone dosage and administer a single 25-μg thyroxine dose. Poor muscle tone/coordination may predispose to aspiration risk and postoperative respiratory dysfunction.

Peters Syndrome (Peters Anomaly): Anterior segment dysgenesis with abnormal cleavage of the anterior chamber of the eye secondary to mutations involving the PAX6 gene.

Krause-Kivlin Syndrome: Same as Peters syndrome with the association of blindness, cleft lip/palate, short-limb dwarfism, delayed mental development, and cardiovascular defects (ventricular septal defect, atrial septal defect). Brain atrophy, seizures, and hydrocephalus are often present.

Jung C, Wolff G, Back E, et al: Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: A new entity? Clin Dysmorphol 4:44, 1995.  [PubMed: 7537583]

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