This congenital syndrome 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 Peters anomaly. Other features may include cardiac anomalies,
hydrocephalus, seizures, and urogenital anomalies.
Krause-Van Schooneveld-Kivlin Syndrome; Peters Anomaly
with Short-Limb Dwarfism; Peters-Plus Syndrome.
Approximately 50 cases have been described
so far. Autosomal recessive inheritance. Consanguinity is a common feature.
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. Peters anomaly of the eye refers to abnormal
embryonic development of the eye, resulting in corneal opacification (central corneal
leukoma, central defect of Descemet's membrane) and adhesions involving the iris, lens, and
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.
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
β-blockers that can exert systemic effects.
Peters Anomaly: Most often characterized by central corneal
leukoma, absence of the posterior corneal-stroma and
Descemet 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.
Frydman M, Weinstock AL, Cohen HA, et al: Autosomal recessive Peters
anomaly, typical facial appearance, failure to thrive, hydrocephalus, and
other anomalies: Further delineation of the Krause-Kivlin syndrome. Am J Med Genet
Lee KW, Lee PD: Growth hormone deficiency (GHD): A new association in Peters' Plus Syndrome (PPS).
Am J Med Genet A 124:388, 2004.
Maillette de Buy Wenniger-Prick LJ, Hennekam RC: The Peters' plus syndrome: A review. Ann Genet