Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…Abstract Background Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is an autosomal recessive rare genetic condition marked by characteristic clinical symptoms of prenatal and post-natal growth retardation, reduced height, and microcephaly caused by variations in PCNT gene located on chromosome 21q22. …”
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Treatment of a femoral neck fracture in a patient with dwarfism: a case report by Junyan Zhao, Liuliu Chen, Kun He, Muyao Li, Zhenwen Li, Hui Lin, Songjun Li

Subjects: “…Pituitary dwarfism…”
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Genetic bases of compact forms among cucurbit crops by A. V. Inozemtseva, A. G. Elatskova, E. K. Khlestkina, N. A. Shvachko

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Prevalence and natural development of thoracolumbar kyphosis in achondroplasia: A systematic review and meta-analysis by Chady Omara, Rania A. Mekary, Carmen L.A. Vleggeert-Lankamp

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Le mythe du microcèbe primitif by Fabien Génin, Judith C Masters

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The inheritance pattern for the dwarf phenotype in hybrids from crosses among sunflower lines differing in alleles of the <i>Rht1</i> locus by I. N. Anisimova, G. V. Khafizova, L. G. Makarova, N. V. Alpatieva, M. K. Ryazanova, O. M. Borisenko, V. A. Gavrilova

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Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafiseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

“…Furthermore, a history of anomalies in previous pregnancies was linked to Klinefelter syndrome, Turner syndrome, dwarfism, and quadriplegia. The number of pregnancies was also correlated with severe LDMH, dwarfism, and Klinefelter syndrome, while job status was related to epilepsy, Alzheimer’s disease, and dwarfism. …”
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Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion by Satoshi Funada, Ryosuke Ikeuchi, Toru Yoshida, Takehiko Segawa

“…Russell-Silver syndrome (RSS) is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma. …”
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Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy by Jing Chen, Dan He, Chengrun Yuan, Na Li, Baohong Shi, Conway Niu, Jiangfei Yang, Liangkai Zheng, Lin Che, Ren Xu

“…Background: Hypochondroplasia (HCH) is a prevalent form of dwarfism linked to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, causing missense alterations. …”
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From Scientific Research to Geoconservation and Geopark by Dan Grigorescu

“…The region illustrates the phenomenon of “insular dwarfism”, linked to the lengthy persistence of animals in isolated habitats. …”
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Osteoblast-Specific Overexpression of Nucleolar Protein NO66/RIOX1 in Mouse Embryos Leads to Osteoporosis in Adult Mice by Qin Chen, Krishna M. Sinha, Benoit de Crombrugghe, Ralf Krahe

“…Genetic ablation of the NO66 (RIOX1) gene in cells of the Prx1-expressing mesenchymal lineage leads to acceleration of osteochondrogenic differentiation and a larger skeleton in adult mice, whereas mesenchyme-specific overexpression of NO66 inhibits osteochondrogenesis resulting in dwarfism and osteopenia. However, the impact of NO66 overexpression in cells of the osteoblast lineage in vivo remains largely undefined. …”
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Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism by Ragini Kondetimmanahalli, Jane Lynch, Gary Francis, Heather Gardner, Radhika Pillai

“…However, reduced growth velocity can also occur as the first sign of chronic anemia, malnutrition, deprivation (psychosocial dwarfism), chromosomal abnormalities, genetic syndromes and inflammatory bowel diseases. …”
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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments by Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo

“…Abstract Background Meier–Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. …”
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Skeletal progenitor LRP1 deficiency causes severe and persistent skeletal defects with Wnt pathway dysregulation by Mohammad Alhashmi, Abdulrahman M. E. Gremida, Santosh K. Maharana, Marco Antonaci, Amy Kerr, Shijian Fu, Sharna Lunn, David A. Turner, Noor A. Al-Maslamani, Ke Liu, Maria M. Meschis, Hazel Sutherland, Peter Wilson, Peter Clegg, Grant N. Wheeler, Robert J. van ‘t Hof, George Bou-Gharios, Kazuhiro Yamamoto

“…These abnormalities, which resemble phenotypes associated with Wnt signalling pathways, result in severe and persistent skeletal defects including a severe deficit in hip joint and patella, and markedly deformed and low-density long bones leading to dwarfism and impaired mobility. Mechanistically, we show that LRP1 regulates core non-canonical Wnt/planar cell polarity (PCP) components that may explain the malformation of long bones. …”
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Archeohandi: protocol for a national disabilities database in archaeology in France by Rozenn Colleter, Valérie Delattre, Cyrille Le Forestier, Alex Baiet, Philippe Blanchard, Fanny Chenal, Anne-Sophie Coupey, Stéphanie Desbrosse-Degobertière, Sylvie Duchesne, Cécile Durin, Jean-Luc Gisclon, Noémie Gryspeirt, Fanny La Rocca, Raphaëlle Lefebvre, Jérôme Livet, Cécile Paresys, Mikaël Rouzic, Isabelle Souquet, Florence Tane, Aminte Thomann, Ivy Thomson, Émilie Trébuchet, Marie-Cécile Truc, Jean-Baptiste Barreau

“…These are trepanation, completely edentulous and/or compensating denture, neuronal impairment, severe scoliosis, Paget's disease, Diffuse Idiopathic Skeletal Hyperostosis (DISH), rickets, dwarfism, infectious diseases, unreduced fracture, amputation, severe degenerative disease and others. …”
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