[Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature].
A case of chromosomic aberration and chondrodysplasia punctata is presented. Nine similar have been previously reported being this case first described in Spain. Hypothesis arouse from these observations suggest that they are different entities but also permit to include bone alterations among chromosomic aberration signs.
Hernández
J
J
Servicio de Neonatología, Hospital Infantil La Paz, Universidad Autónoma, Madrid.
Salas
S
S
Pastor
I
I
Quero
J
J
Collado
F
F
Omeñaca
F
F
D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000453:epidemiology; D004314:Down Syndrome / Q000150:complications* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013030:Spain
Condrodisplasia punctata asociada a síndrome de Down. Presentación de un caso y revisión de la literatura.