|1.||Robertson, Stephen P: 2 articles (05/2007 - 12/2006)|
|2.||Babovic-Vuksanovic, Dusica: 1 article (04/2011)|
|3.||Murphy-Ryan, Maureen: 1 article (04/2011)|
|4.||Lindor, Noralane: 1 article (04/2011)|
|5.||Lapunzina, Pablo: 1 article (05/2007)|
|6.||Rodríguez, José I: 1 article (05/2007)|
|7.||Mariño-Enríquez, Adrián: 1 article (05/2007)|
|8.||Rousseau, Thierry: 1 article (12/2006)|
|9.||Huet, Frédéric: 1 article (12/2006)|
|10.||Colombani, Marina: 1 article (12/2006)|
05/15/2007 - "Otopalatodigital syndrome type 2 (OPD2) is an uncommon X-linked condition characterized by dysmorphic facies, a skeletal dysplasia affecting the axial and appendicular skeleton and extraskeletal anomalies including malformations of the brain, heart, genitourinary system, and intestines. "
12/01/2006 - "A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. "
|3.||Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
02/28/2000 - "The exceptional males born to symptomatic women present with a lethal disorder comprising generalized osteodysplasia, deficiency of the first ray, and facial anomalies strikingly similar to those of otopalatodigital syndrome type 2. We report here on three boys with classical, severe, and lethal otopalatodigital type 2 syndrome, and three boys with severe (lethal) Melnick-Needles syndrome, born to affected mothers. "
|4.||Umbilical Hernia (Omphalocele)
|5.||Dandy-Walker Syndrome (Dandy Walker Malformation)