Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

Agarwal, Vishal; Lachman, Ralph S.; Rimoin, David L.; Wilcox, William R.

doi:10.1002/ajmg.a.30805

Cited by 3 publications

(2 citation statements)

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“…Further, the patients described by Giedion et al [1982] had normal stature rather than short stature. Nevertheless, a severe patient that shares many features of OSMED, but with markedly defective ossification of vertebral body centers and enlarged epiphyses was reported by Agarwal et al [2003], and yet another patient was reported with stippling of the epiphyses [Agarwal et al, 2005]. This phenotypic variability may reflect the fact that haploinsufficiency and mutations with a dominant negative effect on collagens generally result in different phenotypes or degrees of severity [Melkoniemi et al, 2000].…”

Section: Discussionmentioning

confidence: 92%

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

Temtamy

Männikkö

Abdel-Salam

et al. 2006

American J of Med Genetics Pt A

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Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. Less than 30 patients have been reported in the literature so far. It could be either of autosomal dominant (OMIM 154780) or recessive (OMIM 215150) etiology. Two sibs with OSMED are presented. They had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and non-progressive sensorineural deafness. Radiological findings showed short long bones and large epiphyses with metaphyseal flaring and mild platyspondyly and coronal clefting. Homozygosity of a single nucleotide deletion in exon 55 causing a premature stop codon in exon 56 of COL11A2 was detected in the affected sibs. Parents were heterozygotes for the same mutation and interestingly, the father had mild unilateral non-progressive sensorineural deafness. This finding adds more weight that the type of mutation and location in COL11A2 are crucial in determining the phenotype. The purpose of this study is to report clinical and radiological findings in two molecularly proven Egyptian sibs with autosomal recessive OSMED.

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Section: Discussionmentioning

confidence: 92%

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

Temtamy

Männikkö

Abdel-Salam

et al. 2006

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Further, the patients described by Giedion et al 1982 had normal stature rather than short stature. Nevertheless, a severe patient that shares many features of OSMED, but with markedly defective ossification of vertebral body centers and enlarged epiphyses was reported by Agarwal et al 2003, and yet another patient was reported with stippling of the epiphyses [Agarwal et al, 2005]. This phenotypic variability may reflect the fact that haploinsufficiency and mutations with a dominant negative effect on collagens generally result in different phenotypes or degrees of severity [Melkoniemi et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

Surfactant effects on the kinetics of Michael‐type addition reaction in reverse emulsion polymeric systems

2008

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To ensure patients' safety during vascular surgery involving polymer injection, it is important to ensure a high degree of control over the gelation rate of the materials to prevent the formation of uncontrolled emboli from shear or dispersion. Through manipulation of factors affecting the kinetics of in situ forming polymeric systems, patients' safety can be maximized. The rate of Michael-Type Addition is known to be affected by the pH of the accompanying solution, as thiols will become nucleophilic thiolates in an aqueous environment. This work evaluates the effect of the addition of 2 and 4 wt % of several common surfactants on the gelation rate of reverse emulsion polymeric systems as a method for augmenting control of in vivo Michael-type addition kinetics. This work shows that both Tween-20 (HLB 16.7) and Pluronic type surfactants (HLB reverse similar 6.7) stabilize our emulsion, with gelation rates being significantly different in the presence of Pluronic type surfactants (p < 0.05). This work has demonstrated the ability of surfactants to promote faster gelation at lower pH by maximizing emulsion stability and reducing cohesion of smaller bubbles, thereby maximizing surface area between the initiator and the bulk phases.

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2007

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias

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Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

Cited by 3 publications

References 64 publications

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

Surfactant effects on the kinetics of Michael‐type addition reaction in reverse emulsion polymeric systems

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