A number of more or less distinct entities with low birth weight and abnormal radiographic appearances have been identified. We studied two sisters who were unusual because of severe intrauterine growth restriction, absence of growth after birth, decrease of pre- and postnatal spontaneous mobility, and early fatal outcome. The chondro-osseous morphology documented a distinctive osteochondrodysplasia. The radiographic examination was superficially similar to gracile bone dysplasias but was inconsistent with any known types of this group. These two patients appear to have a unique gracile bone dysplasia.
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http://dx.doi.org/10.1002/ajmg.a.10208 | DOI Listing |
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFJ Hum Evol
January 2025
Key Laboratory of Vertebrate Evolution and Human Origins, Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, China; CAS Center for Excellence in Life and Paleoenvironment, Beijing 100044, China.
The hominin mandible SK 15 was discovered in April 1949 in Swartkrans Member 2, dated to ∼1.4 Ma. Albeit distorted on the right side, the left and right corpus of SK 15 are relatively low and thick, even compared to most Early to Middle Pleistocene Homo specimens.
View Article and Find Full Text PDFBiol Open
December 2024
School of Animal, Plant and Environmental Sciences, University of the Witwatersrand, Wits 2050, Johannesburg, Gauteng 2000, South Africa.
Felid bone morphology is highly influenced by factors such as locomotion, body size, and foraging behaviour. Understanding how these factors influence bone morphology is important for interpreting the behaviour and ecology of such species. This study aimed to determine the extent to which Panthera pardus (i.
View Article and Find Full Text PDFAm J Biol Anthropol
October 2024
Department of Neuroscience, The Farkas Family Center for Anatomical Research and Education, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
This paper presents a detailed analysis of the endocast of one of the most complete Paranthropus robustus crania known, DNH 7, from the Drimolen site (South Africa), and compares it with the morphology of other australopithecine endocasts. We focus on endocranial volume, the impressions of cortical sulci, cranial sutures, and the pattern of cranial venous sinuses on the endocast. A noteworthy observation is the estimated endocranial capacity of 403 cm, which is small for an adult Paranthropus.
View Article and Find Full Text PDFSci Rep
July 2024
Zhejiang Museum of Natural History, Hangzhou, 310014, Zhejiang, People's Republic of China.
Tyrannosaurids were the most derived group of Tyrannosauroidea and are characterized by having two body plans: gracile, long-snouted and robust, deep-snouted skulls. Both groups lived sympatrically in central Asia. Here, we report a new deep-snouted tyrannosaurid, Asiatyrannus xui gen.
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