Results 141 to 150 of about 1,193,714 (290)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

A study on the meanings of various “angles” in the head

针刺研究
The clarification of the terms related to the human body shape not only concerns the study of terminology but also the clinical practice of acupuncture.
WANG Rui-qing, YE Ming-zhu, YANG Feng
doaj  

Removal of an intraosseous hemangioma of the frontal bone through an anterior hairline incision: a case report. [PDF]

Arch Craniofac Surg, 2023
Kim MG, Ryu JH, Lee DM, Park TS, Choi JA, Lee KC, Han SH.   +6 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Frontal bone loss following coronal brow lift: A mimicker of head variant linear morphea. [PDF]

JAAD Case Rep, 2023
Kazmi M, Zhang WR, Hsiao E, Gross A, Grouse K, Link TM, Tetzlaff M, Theodosopoulos P, Haemel A.   +8 more
europepmc   +1 more source

BONE STRENGTH OF DIFFERENT PIGS GENETIC TYPES [PDF]

, 2010
The aim of this study was to evaluate the bone strength in different genetic types of pigs. Nowadays, in swine production it is rather common to obtain pigs with weak bones, especially on the hind legs.
Griggio, Michele
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Frontal Bone Osteotomy for Excision of Large Lacrimal Gland Pleomorphic Adenoma: A Rare Case Report. [PDF]

J Maxillofac Oral Surg, 2023
Panda B, Boyina KK, Rather AM, Mishra P, Aditya D.   +4 more
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Outcomes of Open Fronto-Facial Resection for Fungal Osteomyelitis of Frontal Bone. [PDF]

Rambam Maimonides Med J, 2022
Mehta R, Rao KN, Nagarkar NM, Sharma A, Kumar B, Karthik P.   +5 more
europepmc   +1 more source