Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome

Abstract

An 8-year-old girl has hypomelia-hypotrichosis-facial hemangioma syndrome. The patient closely resembles four other patients in whom limb reduction defects, sparse silver-blond hair, characteristic facies, and a mid-facial hemangioma were outstanding features. She is the oldest reported patient with this possible autosomal recessive disorder and the fact that she is of normal men-

Roberts/Pseudothalidomide Syndrome and Normal Intelligence: Approaches'to Diagnosis and Management

“…including distal-extremity reduction and absent thumbs. However, no chromosomal analysis was done (Hall and Greenberg 1972). This is the first report of a patient with the full clinical manifestations of the Roberts syndrome phenotype, but who has normal intelligence and normal personal-social development.…”

An unusual cardiomelic syndrome

“…Although Hall et al [1969] reported unilateral and bilateral ulnar absence in thrombocytopenia with absent radius, 100% of their cases had absent radii. Normal radii and platelet count make this syndrome unlikely in our patient.…”

Clinical Heterogeneity of Skeletal Dysplasia in Roberts Syndrome: A Review

“…In 6 individuals, data were insufficient to de termine which limbs were affected. Hands were attached to shoulders in 4 individuals [6,10,30]. Humeri were normal in 2 individuals, short hypoplastic or deformed in 18, absent in 4 cases, present without detailed description in 11 individuals, and no data were available for 15 individuals.…”