Roberts Pseudothalidomide Syndrome 525g64f 525g64f 525g64f 525g64f 1
General: Rare autosomal recessive disorder characterized by prenatal and postnatal growth retardation, limb defects, and craniofacial anomalies.
Ocular: Cataracts; glaucoma; microcornea; corneal clouding.
Clinical: Patients usually do not survive past I month; patients often are mentally retarded.
Holden KR, Jabs EW, Sponseller PD. Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. Dev Med Child Neural 1992; 34:534-539.
Mandal AK, Singh AP. Roberts pseudothalidomide syndrome. Arch Ophthalmol 2000; 118: 1462-l463.
Otano L, Matayoshi T, Gadow EC. Roberts syndrome: first-trimester prenatal diagnosis. Prenat Diagn 1996; 16: 770-771.
Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 1993; 47:1104-l123.
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