Revista chilena de obstetricia y ginecología
versión On-line ISSN 0717-7526
SALDARRIAGA, Wilmar et al. Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea. Rev. chil. obstet. ginecol. [online]. 2012, vol.77, n.4, pp. 310-314. ISSN 0717-7526. http://dx.doi.org/10.4067/S0717-75262012000400013.
Otopalatodigital syndrome, type 2 (OPD2), is a rare entity with recessive heredity linked to the X chromosome, lethal, characterized by abnormal facies, with centro-facial hypoplasia, ocular hypertelorism, cleft palate, low height, curved long bones, syndactyly, and osseous anomalies on feet and hands. It has been recently shown that patients with OPD2 with mutations in the filamin A gene (FLNA), which is also found altered in allelic entities like the OPD1 syndrome, the Melnik-Needles syndrome and frontometaphyseal dysplasia. Herein, we report a case with prenatal osteochondrodysplasia diagnosis that after physical and radiological exam of the newborn was classified as otopalatodigital syndrome type 2.
Palabras llave : Genetics; osteochondrodysplasias; prenatal diagnosis; musculoskeletal abnormalities.