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Molecular and Cellular Endocrinology Oct 2021Hormone resistances have been described in association with growth disorders, the majority involving the growth hormone (GH)/insulin-like growth factor 1(IGF-1) axis or... (Review)
Review
Hormone resistances have been described in association with growth disorders, the majority involving the growth hormone (GH)/insulin-like growth factor 1(IGF-1) axis or hormones with specific paracrine-autocrine actions in the growth plate. Defects in hormone receptors or in proteins involved in intracellular signal transduction (post-receptor defects) are the main mechanisms of hormone resistance leading to short stature. The characteristic phenotypes of each of these hormonal resistances are very distinct and bring with them important insights into the role of each hormone and its signaling pathway. In this review, we discuss the molecular and clinical aspects of the main hormone resistances associated with short stature in humans.
Topics: Dwarfism; Human Growth Hormone; Humans; Insulin-Like Growth Factor I; Signal Transduction
PubMed: 34333056
DOI: 10.1016/j.mce.2021.111416 -
Scientific Reports Nov 2021The 1-m-tall dwarf elephant Palaeoloxodon falconeri from the Pleistocene of Sicily (Italy) is an extreme example of insular dwarfism and epitomizes the Island Rule....
The 1-m-tall dwarf elephant Palaeoloxodon falconeri from the Pleistocene of Sicily (Italy) is an extreme example of insular dwarfism and epitomizes the Island Rule. Based on scaling of life-history (LH) traits with body mass, P. falconeri is widely considered to be 'r-selected' by truncation of the growth period, associated with an early onset of reproduction and an abbreviated lifespan. These conjectures are, however, at odds with predictions from LH models for adaptive shifts in body size on islands. To settle the LH strategy of P. falconeri, we used bone, molar, and tusk histology to infer growth rates, age at first reproduction, and longevity. Our results from all approaches are congruent and provide evidence that the insular dwarf elephant grew at very slow rates over an extended period; attained maturity at the age of 15 years; and had a minimum lifespan of 68 years. This surpasses not only the values predicted from body mass but even those of both its giant sister taxon (P. antiquus) and its large mainland cousin (L. africana). The suite of LH traits of P. falconeri is consistent with the LH data hitherto inferred for other dwarfed insular mammals. P. falconeri, thus, not only epitomizes the Island Rule but it can also be viewed as a paradigm of evolutionary change towards a slow LH that accompanies the process of dwarfing in insular mammals.
Topics: Age Factors; Animals; Biological Evolution; Body Weight; Dwarfism; Elephants; Fossils; Life History Traits; Longevity; Reproduction
PubMed: 34819557
DOI: 10.1038/s41598-021-02192-4 -
Clinical Orthopaedics and Related... Jan 2020
Topics: Dwarfism; History, 17th Century; Humans; Medicine in the Arts; Paintings
PubMed: 31794480
DOI: 10.1097/CORR.0000000000001076 -
Journal of Medical Genetics Sep 1973A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were...
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the most important aspect of differential diagnosis lies in recognition . The reported association with clover-leaf deformity of the skull in sibs provides the strongest evidence for genetic differentiation from classical achondroplasia. More evidence might be obtained by a widespread search through hospital radiological museums.
Topics: Achondroplasia; Adult; Autopsy; Bone and Bones; Chromosome Aberrations; Chromosome Disorders; Craniofacial Dysostosis; Diagnosis, Differential; Dwarfism; Female; Fetal Death; Humans; Infant, Newborn; Ossification, Heterotopic; Pregnancy; Radiography; Skull
PubMed: 4204337
DOI: 10.1136/jmg.10.3.243 -
Clinical Dysmorphology Oct 2018A 1-month-old full-term female was transferred to our facility from an outside hospital for further evaluation. Pregnancy was complicated by maternal diabetes, and birth...
A 1-month-old full-term female was transferred to our facility from an outside hospital for further evaluation. Pregnancy was complicated by maternal diabetes, and birth weight was 4.1 kg. She was prenatally diagnosed with hypoplastic left heart syndrome and omphalocele. Postnatally, she was found to have cleft lip and palate, two natal teeth, choanal atresia, bilateral clubfeet, and imperforate anus. Physical examination was notable for short limbs and broad, apparently duplicated distal phalanx of digits 1–2 of both hands (Fig. 1). Her facial dys-morphology included frontal bossing, malar hypoplasia, flat nasal bridge, hypertelorism, anteverted nares, and full cheeks (Fig. 2). Imaging was notable for normal-appearing uterus but no gonadal tissue on pelvic ultra-sound, as well as bifid distal phalanges of the bilateral first and second digits on hand radiographs (Fig. 3). Of her various dysmorphic features, we found her duplicated distal phalanges to be the most unique and striking feature, and searched the literature extensively for reports of similar cases, but found none at the time. Her clinical course was marked by cardiorespiratory failure requiring chronic mechanical ventilation, and she ultimately underwent tracheostomy. Throughout her life, she was dependent on tube feeding, ultimately requiring gastrostomy placement. The course was further complicated by pulmonary hypertension and apnea. She expired at 7 months of age because of apnea of unclear etiology. Family history was unremarkable.
Topics: Craniofacial Abnormalities; Dwarfism; Female; Humans; Infant; Limb Deformities, Congenital; Urogenital Abnormalities
PubMed: 29864040
DOI: 10.1097/MCD.0000000000000230 -
Journal of Medical Genetics Aug 1990
Topics: Adult; Bone and Bones; Diagnosis, Differential; Dwarfism; Humans; Intellectual Disability; Male; Osteochondrodysplasias; Radiography; Syndrome
PubMed: 2213845
DOI: 10.1136/jmg.27.8.512 -
Journal of Medical Genetics Apr 1979
Topics: Abnormalities, Multiple; Dwarfism; Face; Humans; Ribs; Syndrome
PubMed: 458838
DOI: 10.1136/jmg.16.2.162 -
Archives of Disease in Childhood Feb 1969
Topics: Achondroplasia; Child; Child, Preschool; Clubfoot; Contracture; Diagnosis, Differential; Dwarfism; Female; Genes, Recessive; Humans; Infant; Infant, Newborn; Joint Diseases; Joint Dislocations; Male; Mucopolysaccharidosis IV; Radiography; Scoliosis
PubMed: 4974762
DOI: 10.1136/adc.44.233.48 -
The British Journal of Ophthalmology Mar 1963
Topics: Adolescent; Chorioretinitis; Dwarfism; Glaucoma; Humans; Myopia; Optic Atrophy
PubMed: 14188319
DOI: 10.1136/bjo.47.3.182 -
Proceedings of the Royal Society of... Aug 1951
Topics: Dwarfism; Humans
PubMed: 14864590
DOI: No ID Found