|1.||Superti-Furga, Andrea: 7 articles (05/2014 - 01/2005)|
|2.||Bonafé, Luisa: 5 articles (05/2014 - 01/2005)|
|3.||Nishimura, Gen: 4 articles (10/2014 - 06/2006)|
|4.||Unger, Sheila: 3 articles (05/2014 - 10/2005)|
|5.||El Ghouzzi, Vincent: 3 articles (02/2013 - 02/2003)|
|6.||Kinning, Esther: 2 articles (04/2015 - 02/2003)|
|7.||Ikegawa, Shiro: 2 articles (04/2015 - 06/2006)|
|8.||Rauch, Frank: 2 articles (11/2014 - 02/2013)|
|9.||Ben Amor, Mouna: 2 articles (11/2014 - 02/2013)|
|10.||Hall, Christine M: 2 articles (10/2014 - 01/2005)|
10/01/2003 - "Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies."
05/01/2003 - "We describe an APECED patient with severe deformities of the tibia with radiological signs of metaphyseal dysplasia in addition to candidiasis, hepatitis, diabetes mellitus and adrenal failure. "
|2.||Fetal Growth Retardation (Intrauterine Growth Retardation)
01/01/2002 - "Recently, in three unrelated boys, CAH was associated with intrauterine growth retardation (IUGR), metaphyseal dysplasia and genital abnormalities, defining a new association called IMAGe. "
01/01/2002 - "These patients have the main clinical characteristics of IMAGe association: IUGR, facial dysmorphy (frontal bossing, broad nasal bridge, low-set ears), short limbs due to metaphyseal dysplasia, and adrenal insufficiency. "
12/01/2014 - "Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. "
05/01/2014 - "We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. "
01/01/2014 - "Though variable, this disorder mainly consists of Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities. "
06/16/1998 - "We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. "
01/01/1990 - "In a 12 years, 10 months-old-girl with severe nanism we observed bone changes of unusual spondylo-epi-metaphyseal dysplasia (S.E.M.D.). "
02/01/1982 - "Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings."
11/01/1995 - "Unusual radiographic abnormalities (platyspondyly with unique shape of the vertebral bodies, shortening of the long tubular bones without signs of rickets or metaphyseal dysplasia, marked shortening of well-ossified short tubular bones, schneckenbecken-like pelvis with tri-radiate acetabulum, pseudoepiphysis of the right ulna, unusual shape of calcaneus and periarticular calcifications) allow designation of this disorder as a new form of neonatal dwarfism."
10/01/1984 - "Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. "
|4.||Developmental Bone Diseases (Bone Dysplasia)
11/01/2014 - "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia that until now has only been reported in French Canadian individuals. "
02/07/2013 - "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. "
06/01/2006 - "We report on a 7-year-old Japanese girl with metaphyseal dysplasia (MD) of Braun-Tinschert type, a recently recognized, autosomal dominant sclerosing bone dysplasia. "
12/01/2003 - "Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia."
02/01/1993 - "Differentiation from other sclerosing bone dysplasias, including metaphyseal dysplasia (Pyle's disease), craniodiaphyseal dysplasia, and diaphyseal dysplasia is based largely on characteristic radiographic findings. "
|5.||Mental Retardation (Idiocy)
03/01/2007 - "It is characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. "
01/01/1985 - "The authors describe two sisters with the typical characteristics of cranio-metaphyseal dysplasia and mental retardation. "
11/01/2010 - "Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. "
09/01/2004 - "Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. "
02/01/2003 - "Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1. DMC is characterized by the association of a spondylo-epi-metaphyseal dysplasia and mental retardation. "
|1.||X-linked adrenal hypoplasia congenita
|1.||Renal Replacement Therapy (Therapies, Renal Replacement)