versão On-line ISSN 1683-9803
GONZALEZ BURGOS, Lourdes; DI MARTINO ORTIZ, Beatriz e LACARRUBBA, Luz. Adams-Oliver Syndrome: Presentation of an Incompletely Expressed Case. Pediatr. (Asunción) [online]. 2011, vol.38, n.3, pp. 221-224. ISSN 1683-9803.
Adams-Oliver syndrome (AOS) is an uncommon genodermatosis with sporadic familial cases that is of autosomal dominant inheritance although autosomal recessive inheritance has also been demonstrated. It is of variable intra- and inter-familial expression and is characterized by the association of aplasia cutis congenita of the scalp, transverse limb anomalies, and cutis marmorata telangiectatica congenita. We present the case of a male patient with sporadic incompletely expressed AOS including aplasia cutis congenita of the scalp, generalized cutis marmorata telangiectatica congenita, cryptorchidism, and renal impairment. The therapeutic focus in this case was multidisciplinary.
Palavras-chave : Adams-Oliver syndrome; aplasia cutis congenita; malformation; genodermatosis.