INTRODUCTION Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a po...

Routine removal of the tip of the beak of chickens within the poultry industry leads to changes in pecking behavior, which have previously been interpreted as being indicative of pain. By analyzing the force of pecks, with and without the topical application of an analgesic to the beak, we investigated if changes in pecking behavior were due to a loss of sensitivity in the beak or were pain rel...

Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...

There is still much difficulty in elucidating the aetiological causes of dwarfism as it presents itself in children. After Erdheim in 1916 attributed dwarfism to a lack of pituitary secretion, it was for many years a common habit to implicate a pituitary deficiency in alJ dwarfs whatever their clinical features. A reaction to this unscientific approach was to be expected, and it has been so ext...

The objective of this study was to assess beak shape variation in domestic turkeys (Meleagris gallopavo) and determine the effects of age, sex, and beak size on beak shape variation using geometric morphometrics. Dorsal and right lateral images were taken of 2442 turkeys at 6 and 18.5 weeks of age. Landmarks were digitized in tpsDig in three analyses of the dorsal upper mandible, lateral upper ...

Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...

Cockayne's syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. The case of a 4-year-old male with Cockayne's syndrome is presented. A dental rehabilitation invol...

The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagn...

We present the anesthetic management of an infant with Desbuquois syndrome (a rare form of micromelic dwarfism) with a possible difficult airway. The anesthetic implications of this syndrome are presented. The airway was managed with a new supraglottic device - the CobraPLA. Although intubation through this device was not possible in this instance, CobraPLA provided a satisfactory supraglottic ...

Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, classic phenotype composed of optic atrophy, diabetes mellitus type 1, insipidus, and deafness. syndrome, however, phenotypically heterogenous with variable clinical manifestations age onset. We describe four cases genetically confirmed presentations, including acute-on-chronic...