title: [Coffin Lowry syndrome associated with repeated pneumonia].
abstract: Authors described a new case of Coffin Lowry syndrome which presents a severe form, typical of males. Slight degree of affection in the mother and sister supports hypothesis of X-linked dominant trait. Authors want to underline normal appearance of the newborn period and progressive appearance of both neurological alterations and typical face of this condition. They have observed repetitive pneumonia probably produced by alimentary aspiration.
authors.affiliation: Departamento de Pediatría, Hospital 1. de Octubre, Madrid.
authors.forename: G
authors.initials: G
authors.lastname: Bustos Lozano
authors.forename: J L
authors.initials: JL
authors.lastname: Barrionuevo Porras
authors.forename: J
authors.initials: J
authors.lastname: Sánchez de Pozo
authors.forename: G
authors.initials: G
authors.lastname: Lledó
authors.forename: M
authors.initials: M
authors.lastname: Gallego
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D011014:Pneumonia / Q000150:complications*; D013577:Syndrome
vernacular_title: Síndrome de Coffin Lowry asociado a neumonías de repetición.