Search results for "Dwarfism"
showing 10 items of 40 documents
A rare form of spondylometaphyseal dysplasia-type A4
1998
We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.
Generalising Theories Explaining the Different Modes of SME Development and the Associated Growth Trajectories
2010
Previous research has identified two forms of “abnormal” growth – styled as business dwarfism and gigantism - which can both lead to missed opportunities for owners/entrepreneurs and local economies, and even to business crisis and collapse. It has also shown that stunted and inflated growth phenomena, rather than being characterised by completely different rules and rationales, are closely related and that certain fundamental structures and processes underpin both those forms of ab-normal company growth behaviour. This paper reports an examination of a further SME phenomenon – what we have chosen to call "micro-giants". These are companies that would be categorised as rela-tively small fir…
Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observation…
2019
Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Result…
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
2016
Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…
A Physiological Approach to Analysing SME Growth Patterns and to Understanding the Distinctions and Similarities between Normal and Abnormal Growth
2010
Building on earlier work on abnormal SME growth trajectories, this paper investigates to what extent the analysis can be extended to the study of an unusual but “normal” growth pattern. The detailed case histories of two firms which might be called micro-giants are presented. These are companies that would be categorised as small firms but are actually competing, and competing successfully, in non-niche markets with much larger firms, or even multinational giants. The resource based view and modelling approaches developed in the earlier non-normal growth situations is then applied to these cases. It is argued that by viewing the management of strategic assets as part of the normal business …
Management Simulator as an Instrument to Aid Turning “Stunted Growth” Round in Family Businesses
2008
This paper is the fourth in a series which has described the role and construction of simulation models and a ‘Management Flight Simulator’ that could aid the entrepreneur-owners of so-called ‘dwarf’ or ‘stunted growth’ small firms to break out from the constraints holding them back. While the research presented to date has highlighted the issues in such companies, and has suggested that in many situations relatively simple changes only might be needed to unleash the growth potential of such firms, effecting such changes is not likely to be that “simple” in real life. It has to be possible for affected owner-entrepreneurs to understand a number of factors: that there is a problem (or opport…
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
1996
A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.
Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging
1998
Heterochronic differentiation of sexual dimorphs among Jurassic ammonite species
1997
Ontogenetic and then heterochronic approaches are used here to analyze sexual differentiation within two well-known Jurassic dimorphic species. This analysis compares two ways of determining the relative biological age of ammonites, one using size (diameter) and the other the number of septa as a proxy of age. The shape standard is established from factor analysis of morphological and growth parameters. Size-age-shape relationships are analyzed on the basis of a new heterochronic representation. When diameter is used as a proxy of age, microconch morphs are globally considered to be progenetic compared with macroconch morphs. When size and age are determined separately and shape is included…
2018
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia and intellectual disability. This disorder called Lenz-Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid …