title: Axial spondylometaphyseal dysplasia: additional reports.
abstract: 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.
authors: Department of Pediatrics, Asahikawa Medical University, Japan. shige5p@asahikawa-med.ac.jp
authors: Shigeru
authors: S
authors: Suzuki
authors: Ok-Hwa
authors: OH
authors: Kim
authors: Yoshio
authors: Y
authors: Makita
authors: Tetsuya
authors: T
authors: Saito
authors: Gye-Yeon
authors: GY
authors: Lim
authors: Tae-Joon
authors: TJ
authors: Cho
authors: Abdulrahman
authors: A
authors: Al-Swaid
authors: Shatha
authors: S
authors: Alrasheed
authors: Eiad
authors: E
authors: Sadoon
authors: Osamu
authors: O
authors: Miyazaki
authors: Sachiko
authors: S
authors: Nishina
authors: Andrea
authors: A
authors: Superti-Furga
authors: Sheila
authors: S
authors: Unger
authors: Kenji
authors: K
authors: Fujieda
authors: Shiro
authors: S
authors: Ikegawa
authors: Gen
authors: G
authors: Nishimura
mesh_terms: D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics*; D011859:Radiography; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology*