A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis.
F, Horan, P, Beighton
openaire +2 more sources
Seckel syndrome: A rare case report
Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In
Rinky Sisodia +2 more
doaj +1 more source
Multiparental mapping of plant height and flowering time QTL in partially isogenic sorghum families. [PDF]
Sorghum varieties suitable for grain production at temperate latitudes show dwarfism and photoperiod insensitivity, both of which are controlled by a small number of loci with large effects.
Assaranurak, I +3 more
core +1 more source
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus.
A Juneja, A Sultan, S Bhatnagar
doaj +1 more source
FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam +13 more
core +2 more sources
Paleoneuroanatomy of the European lambeosaurine dinosaur Arenysaurus ardevoli [PDF]
The neuroanatomy of hadrosaurid dinosaurs is well known from North America and Asia. In Europe only a few cranial remains have been recovered that include the braincase. Arenysaurus is the first European endocast for which the paleoneuroanatomy has been
Canudo, JI +3 more
core +10 more sources
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience [PDF]
Purpose We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods We reviewed the medical records of 50 patients who
Su Jin Kim +4 more
doaj +1 more source
Hemp (Cannabis sativa) has gained global attention since being legalized in the USA in 2018. The legalization of hemp is also underway in Korea; however, it requires facility cultivation and an agricultural technological system that can produce high ...
Seungyong Hahm +4 more
doaj +1 more source
Reasons, Rationalities, and Procreative Beneficence: Need Häyry Stand Politely By While Savulescu and Herissone-Kelly Disagree? [PDF]
The claim that the answers we give to many of the central questions in genethics will depend crucially upon the particular rationality we adopt in addressing them is central to Matti Häyry’s thorough and admirably fair-minded book, Rationality and the ...
Herissone-kelly, Peter N
core +1 more source
Diagnosis and Treatment of Growth Hormone Deficiency: A Position Statement from Korean Endocrine Society and Korean Society of Pediatric Endocrinology [PDF]
Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life ...
Jung Hee Kim +30 more
doaj +1 more source

