A 1-MONTH-OLD girl, whose parents were first cousins, had multiple developmental abnormalities. There was severe shortening of the upper and lower limbs (Figure 1). The right thumb was absent and the left thumb was hypoplastic (Figure 2). Findings from an ocular examination revealed bilateral microcornea with corneal clouding and superficial corneal opacity with vascularization (Figure 3 and Figure 4). Intraocular pressure was normal when measured under general anaesthesia. There was a capillary hemangioma on the forehead; the patient had a wide nasal bridge. Radiography of the limbs showed an absence of radii (Figure 5) and an absence of fibulae (Figure 6). Most chromosomes from a peripheral blood sample revealed puffing at the centromeres and many showed premature separation (Figure 7). This patient was followed up for 17 months; there was no evidence of mental retardation.
Mandal AK, Singh AP, Rao L, Singh L, Hornby S, Jones B. Roberts Pseudothalidomide Syndrome. Arch Ophthalmol. 2000;118(10):1462-1463. doi:10.1001/archopht.118.10.1462