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True generalized microdontia and hypodontia with spondyloepiphyseal dysplasia.
Case Rep Dent
January 2014
Department of Pediatrics, Indira Gandhi Medical College & Hospital, Shimla, Himachal Pradesh 171001, India.
Spondyloepiphyseal dysplasia (SED) is a descriptive term used for group of inherited disorders of bone growth resulting in short stature, skeletal abnormalities, and problems with hearing and vision. SED have three major forms, SED congenital, pseudoachondroplastic SED, and SED tarda. SED tarda is milder than SED congenita.
View Article and Find Full Text PDFTwo non familial cases of pseudoachondroplasia are reported. The patients, observed at 4 years and 6 months and 5 years respectively, show short-limb dwarfism with disproportionated long trunk and with normal head and face. Flattening of vertebral bodies with biconvex deformity and short tubular bones with irregular epiphyses and metaphyses are the major radiographic features.
View Article and Find Full Text PDF[The pseudoachondroplastic form of spondyloepiphyseal dysplasia: apropos of 2 cases].
Pediatr Med Chir
January 1990
Clinica Pediatrica R, Istituto di Medicina Infantile, Palermo, Italia.
The Authors report two cases of pseudoachondroplasic dysplasia observed in a child aged 2 years and 5 months and in her father 31 years old. They recall the rarity of this disease, its characteristic and radiological findings and dwell upon differential diagnosis between this rare form of condrodysplasia and achondroplasia.
View Article and Find Full Text PDFCentral areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia.
Ophthalmic Paediatr Genet
March 1988
Department of Ophthalmology, University of Texas Medical Branch, Galveston 77550.
The author reports the first association of central areolar choroidal dystrophy in three brothers with pseudoachondroplastic spondyloepiphyseal dysplasia. Both central areolar choroidal dystrophy and pseudoachondroplastic spondyloepiphyseal dysplasia represent heterogeneous disorders with autosomal dominant transmission. It is hypothesized that this association is a result of a new subtype involving both the skeletal system and the eye.
View Article and Find Full Text PDFFlattening of the epiphysis of the long bones is seen in several bone dysplasias. It is the hallmark of multiple epiphyseal dysplasia and is an important sign in the diagnosis of spondyloepiphyseal dysplasias, diastrophic dysplasia, and pseudoachondroplastic dysplasia. The goal of this study was to determine norms for the height of the distal femoral epiphysis and to apply these standards to patients with bone dysplasias.
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