7 182

Cited 5 times in

Axial spondylometaphyseal dysplasia: additional reports.

Suzuki, S; Kim, OH; Makita, Y; Saito, T; Lim, GY; Cho, TJ; Al-Swaid, A; Alrasheed, S; Sadoon, E; Miyazaki, O; Nishina, S; Superti-Furga, A; Unger, S; Fujieda, K; Ikegawa, S; Nishimura, G
American journal of medical genetics. Part A, 155A(10):2521-2528, 2011
Journal Title
American journal of medical genetics. Part A
Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted much attention since initially reported; however, it has been included in the nosology of genetic skeletal disorders [Warman et al. (2011); Am J Med Genet Part A 155A:943-968] in part because of a recent publication of two additional cases [Isidor et al. (2010); Am J Med Genet Part A 152A:1550-1554]. We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined: The main clinical findings are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. Equally affected sibling pairs of opposite gender and parental consanguinity are strongly suggestive of autosomal recessive inheritance.
MeSH terms
ChildChild, PreschoolDiagnosis, DifferentialFemaleGenes, Recessive/geneticsHumansInfantMaleOsteochondrodysplasias/diagnosis/*genetics/*radiographyRetinal Diseases/genetics/*pathology
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
RIS (EndNote)
XLS (Excel)


해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.