[Syndrome of hypomelia, hypotrichosis and facial hemangioma (pseudothalidomide syndrome)].
A case of hypomelia, hypotrichosis and facial hemangioma (pseudothalidomide S.) is presented, which according to bibliography consulted, is the first case in Spain and the tenth mentioned in world literature. A differential diagnosis with dysostosis is proposed. Authors described characteristic traits of the patient and indicate differences with those presented in previous publications emphasizing association with cleft lip, absence of eyes anomalies, and normal neurological development. The importance of the administration of tetracyclines and spiramycins to the mother during first month of gestation is also noted.
D000014:Abnormalities, Drug-Induced / Q000209:etiology; D000015:Abnormalities, Multiple / Q000473:pathology*; D000505:Alopecia / Q000151:congenital*; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D004480:Ectromelia / Q000473:pathology*; D005153:Facial Neoplasms / Q000151:congenital*; D006391:Hemangioma / Q000151:congenital*; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital*; D007231:Infant, Newborn; D007933:Leucomycins / Q000009:adverse effects; D008297:Male; D013577:Syndrome; D013754:Tetracyclines / Q000009:adverse effects
D007933:Leucomycins; D013754:Tetracyclines
Síndrome de hipomelia, hipotricosis y hemangioma facial (Síndrome pseudotalidomídico).