[Coffin Lowry syndrome associated with repeated pneumonia].
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.
Bustos Lozano
G
G
Departamento de Pediatría, Hospital 1. de Octubre, Madrid.
Barrionuevo Porras
J L
JL
Sánchez de Pozo
J
J
Lledó
G
G
Gallego
M
M
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
Síndrome de Coffin Lowry asociado a neumonías de repetición.