title: [The Adams-Oliver syndrome in Spain: the epidemiological aspects].
abstract: Adams and Oliver (1945) described a family with several affected individuals with terminal transverse limb reduction defects and aplasia cutis congenita of the scalp. The clinical expression was highly variable and the pattern showed a family transmission compatible with an autosomal dominant condition. Since the first description, many cases have been published with this pattern of anomalies being known as Adams-Oliver syndrome. Here we present five affected patients ascertained among the 21,835 malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC). Epidemiological aspects and clinical features of the patients are presented and compared with data from the literature.
authors.affiliation: ECEMC, Facultad de Medicina, Universidad Complutense de Madrid.
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: I
authors.initials: I
authors.lastname: Arroyo Carrera
authors.forename: N J
authors.initials: NJ
authors.lastname: Muñoz-Delgado
authors.forename: C
authors.initials: C
authors.lastname: Nieto Conde
authors.forename: E
authors.initials: E
authors.lastname: Rodríguez-Pinilla
authors.forename: M
authors.initials: M
authors.lastname: Urioste Azcorra
authors.forename: F
authors.initials: F
authors.lastname: Omeñaca Teres
authors.forename: A
authors.initials: A
authors.lastname: García Alix
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D012535:Scalp / Q000002:abnormalities*; D013030:Spain / Q000453:epidemiology; D013577:Syndrome