An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature

Abstract

In three sibs of Jordanian descent a unique type of severe spondylo‐meta‐epiphyseal dysplasia results in extreme disproportionate dwarfism. They have a distinct facial appearance with hypotelorism, prognathia, and hypodontia. The limbs are short and the hands and feet stubby. Radiologically, the irregular end plates of the vertebral bodies, the very small and late appearing epiphyseal ossification centres, and the hypoplastic acetabular roofs are most impressive. Histopathologic studies of the growth plate demonstrate characteristic findings with fingerprint‐like inclusion bodies in the hypertrophic chondrocytes. This seems to be a distinct, autosomal recessive skeletal dysplasia. © 1996 Wiley‐Liss, Inc.

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism

“…Judging from the clinical, radiological, and histological appearance, the two sibs in this report and the sibs described by Menger et al 1 seem to constitute a distinct bone dysplasia. Clinical characteristics are an extremely severe dwarfism with standard deviation scores of −9 to −13 after the first year of life and an adult height of approximately 85 cm in females.…”

“…The observation of multiple affected children of unaffected parents and the consanguinity of the parents of the sibs described by Menger et al 1 are compatible with autosomal recessive inheritance.…”

“…The various entities which fall within this spectrum are differentiated on the basis of clinical and radiological anomalies. Following a recent report by Menger et al 1 of sibs with an unknown type of SMED, we wish to report the phenotype of two brothers affected with a similar pattern of clinical and skeletal anomalies. The designation anauxetic dysplasia (from the Greek term for not growing, not permitting growth) is proposed.…”

Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

“…The first and fifth metacarpals are short and wide with small, late‐ossifying epiphyses and bullet‐shaped middle phalanges. A large reduction in the number of chondrocytes in the resting and proliferating zones, with diminished columnization of the hypertrophic zone has also been observed .…”

A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa

“…Other manifestations such as small femoral epiphyses and femoral necks with absent knee and distal tibial epiphyses, and dislocated patellae were not present in our patient. Other rare syndromes with pre-and post-natal short stature and rhizomelia [Barrow and Fitzsimmons, 1984;Beemer et al, 1985;Turnpenny and Thwaites, 1992;Pinto et al, 1993;Menger et al, 1996;Cameron et al, 1998;Bieganski et al, 2001] were excluded because they do not include the retinitis pigmentosa, photophobia, and have kinds of facial abnormalities and/or skeletal features.…”