Krause-van Schooneveld-Kivlin Syndrome

At a glance

This congenital medical condition is characterized by the combination of short limb dwarfism, facial anomalies, and mental retardation with ophthalmologic anomalies. Corneal opacification and shallow anterior chamber with synechiae are summarized as Peter’s anomaly. Other features may include congenital heart defects, hydrocephalus, seizures, and urogenital anomalies.

Synonyms

Krause-Kivlin Syndrome; Peter’s Anomaly with Short-Limb Dwarfism; Peters-Plus Syndrome.

Incidence

Approximately 50 cases have been described so far.

Genetic Inheritance

Autosomal recessive inheritance trait is suspected. Consanguinity is a common feature.

Clinical aspects

Intrauterine and postnatal growth retardation with birth weight and length below the third percentile and postnatal length also below the third percentile. Mental retardation of variable degree affects the majority of these patients and seizures have been reported in a minority. Peter’s anomaly of the eye refers to abnormal embryonic development of the eye, resulting in corneal opacification (central corneal leukoma, central defect of the Descemet’s membrane) and adhesions involving the iris, lens, and cornea. The Descemet’s membrane is the basement membrane that lies between the stroma and the endothelial layer of the cornea. Glaucoma is the main cause of loss of vision in many of these patients. Abnormal facial features include round face, microcephaly (less commonly macrocephaly), hydrocephalus with cerebral atrophy, hypertelorism, abnormal ears, depressed nasal bridge, mild micrognathia, cleft lip and/or palate, thin upper lip, and hypoplastic columella. Brachymorphism, especially of the hands, tapering brachydactyly, and fifth finger clinodactyly are prominent findings. Cardiac defects such as ventricular and/or atrial septal defects occur in about one-third of patients. Urogenital abnormalities frequently occur and may include pyelonephritis, hydronephrosis, and duplication of the ureters and hypospadias. Spina bifida and anal atresia have been reported in some patients. A recent case report showed that these patients may be growth hormone deficient and respond well to its exogenous substitution.

Anesthetic considerations

Assess the patient for cardiac defects (clinically, echocardiogram) and for renal anomalies (creatinine, urea, ultrasound). Dysmorphic facial features, especially micrognathia, may make airway management difficult. Raised intracranial pressure may be present. Mental retardation may limit patient cooperation. Sedative and/or anxiolytic premedication and the presence of the primary caregiver for induction of anesthesia may be helpful. Avoid succinylcholine in the presence of glaucoma. Glaucoma therapy may include topical beta-blockers that can exert systemic effects.

Other condition to be considered

• ☞Peter’s Anomaly: Most often characterized by central corneal leukoma, absence of the posterior corneal-stroma and Descemet’s membrane (the membrane limiting the posterior aspect of the cornea), amblyopia, visual impairment, and a variable degree of iris and lenticular synechiae with the central aspect of the posterior cornea. Severe glaucoma is common.

References