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.