Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors discuss 2 cases of facial dysmorphism associated with AIDS. Both children were evaluated by staff members an results showed that the 4-year old male showed most of the criteria for the diagnosis of facial dysmorphism (a severe case). The 10-month infant showed a less typical form of dysmorphism, described by the author as more moderate in severity. The 2 children were severely immunodepressed and showed positive HIV titers. In the 1st case, the mother did of an undiagnosed immunodeficiency status when the child was 2 years old. In the other case, both parents were HIV positive and the father was suffering from the disease at that time. The facial features included: boxlike forehead, a flattened, scooped-out appearance of the nasal bridge, ocular hypertelorism, prominent triangular philtrum, prominent patoulos lips, prominent palpebrae fissure, mild upward obliquity of the eyes, blue sclerae, and 2 epicanthal folds unique to these cases. The 2 children represent the 1st cases of facial dysmorphism associated with congenital AIDS in the medical literature. (author's modified)
Arch Domin Pediatr
PMID:[Facial deformity associated with acquired immunodeficiency syndrome (AIDS). Report of two cases]. 1234 54