title: Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.
abstract: We report on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterized by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay. This constellation likely represents a previously undescribed skeletal dysplasia, most probably inherited in an autosomal recessive pattern. A homozygosity mapping approach has thus far failed to unearth the responsible gene as the region shared by these three sibs is 27.7 Mb in size and contains over 200 genes with no obvious candidate.
authors: Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.
authors: Tawfeg
authors: T
authors: Ben-Omran
authors: Shenela
authors: S
authors: Lakhani
authors: Mariam
authors: M
authors: Almureikhi
authors: Rehab
authors: R
authors: Ali
authors: Atsushi
authors: A
authors: Takahashi
authors: Noriko
authors: N
authors: Miyake
authors: Naomichi
authors: N
authors: Matsumoto
authors: Shiro
authors: S
authors: Ikegawa
authors: Andrea
authors: A
authors: Superti-Furga
authors: Sheila
authors: S
authors: Unger
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging / Q000473:pathology; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007717:Knee / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010388:Pelvis / Q000000981:diagnostic imaging / Q000473:pathology; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology
keywords: Arab; Qatar; autosomal recessive; cone epiphyses; developmental delay; skeletal dysplasia