|1.||Robertson, Stephen P: 6 articles (12/2015 - 04/2003)|
|2.||Wilkie, Andrew O M: 3 articles (08/2006 - 04/2003)|
|3.||Wilson, Louise C: 2 articles (12/2015 - 06/2015)|
|4.||Adès, Lesley: 2 articles (06/2015 - 08/2006)|
|5.||Krakow, Deborah: 2 articles (06/2009 - 08/2006)|
|6.||Illés, Tamás: 2 articles (08/2006 - 01/2003)|
|7.||Newbury-Ecob, Ruth: 2 articles (08/2006 - 04/2003)|
|8.||Morgan, Timothy: 2 articles (08/2006 - 05/2006)|
|9.||Suri, Mohnish: 2 articles (08/2006 - 04/2003)|
|10.||Shears, Deborah J: 2 articles (08/2006 - 04/2003)|
|1.||Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
08/01/2011 - "Mutations in a specific domain, Ig10 (FlnA-Ig10), are correlated with two severe forms of the otopalatodigital syndrome spectrum disorders Melnick-Needles syndrome and frontometaphyseal dysplasia. "
01/01/2007 - "The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick - Needles syndrome. "
01/01/2007 - "Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome."
05/01/2006 - "All OPD spectrum disorders (otopalatodigital syndromes types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome) exhibit significant interfamilial variability in their expressivity, especially in female subjects. "
07/15/2005 - "OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). "
|2.||Hearing Loss (Hearing Impairment)
12/01/1979 - "A 12-year-old by with unusual face and hearing loss was diagnosed as having frontometaphyseal dysplasia. "
06/01/2015 - "Frontometaphyseal dysplasia (FMD) is a distinctive sclerosing skeletal dysplasia associated with a number of non-skeletal manifestations including hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. "
08/15/2006 - "Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. "
01/01/2012 - "Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. "
01/01/1988 - "Laryngo-tracheal stenosis in frontometaphyseal dysplasia."
01/01/2011 - "Extra-neurological features including cardiovascular abnormalities, coagulopathy, skeletal dysplasia and joint hypermobility have sometimes been described in patients with PH. Respiratory manifestations have not been associated with FLNA disorders with the exception of tracheal stenosis and pulmonary hypoplasia associated with frontometaphyseal dysplasia and Melnick-Needles syndrome. "
01/30/2003 - "We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. "
01/30/2003 - "Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families."
04/01/1978 - "Frontometaphyseal dysplasia presenting as scoliosis."