Results 51 to 60 of about 1,610 (176)

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains
Erica L. Macke, Anthony R. Miller, Caitlyn M. Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Lakshmi Prakruthi Rao Venkata, Lauren Walker, Gregory Wheeler, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Mariam T. Mathew, Bimal P. Chaudhari, Yassmine Akkari   +13 more
wiley   +1 more source

Displasia espondilometafisaria tipo Kozlowski

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
La displasia espondilometafisaria Kozlowski es un tipo de displasia ósea, que está comprendida dentro de un grupo de desórdenes que afecta fundamentalmente la metáfisis de huesos tubulares, con preferencia por la columna vertebral. Está caracterizada por
Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang   +1 more
doaj  

The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia

Prenatal Diagnosis, Volume 45, Issue 1, Page 77-88, January 2025.
ABSTRACT Objective This study aims to assess the diagnostic value of post‐mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Method Prenatal ultrasound findings and their association with post‐mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally
Katri Rajala, Sanna Toiviainen‐Salo, Outi Mäkitie, Vedran Stefanovic, Laura Tanner   +4 more
wiley   +1 more source

Isolated Madelung's deformity: long-term follow-up study of five patients treated surgically

, 2007
Five patients with isolated Madelung's deformity were reviewed with an average follow-up of 34 years after surgery. All the patients were female and their average age at surgery was 12.7 years, whereas the average age at follow-up was 53 years.
FARSETTI, PASQUALE, Ernesto Ippolito, IPPOLITO, ERNESTO, Caterini, R, CATERINI, ROBERTO, Potenza, V, Farsetti, P, Nicoletti, S, Pasquale Farsetti, Roberto Caterini, Cosimo Tudisco, Tudisco, C, Vito Potenza, POTENZA, VITO, TUDISCO, COSIMO, Simone Nicoletti, Ippolito, E   +16 more
core   +1 more source

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination

Congenital Anomalies, Volume 65, Issue 1, January/December 2025.
Abstract The current case report presents the postmortem examination findings of a 17‐week‐old female fetus displaying thanatophoric dysplasia type 1 (TD‐1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X‐ray examination revealed significant abnormalities, including skeletal malformations with prominent TD‐1 femur ...
Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou   +5 more
wiley   +1 more source

Prevalence and Risk Factors of Depression in Patients With Endemic Osteoarthritis Kashin–Beck Disease

Depression and Anxiety, Volume 2025, Issue 1, 2025.
Background: Kashin–Beck disease (KBD) is an endemic osteoarthropathy, which occurs in children aged 3–12, with similarity to osteoarthritis (OA). Previous studies have shown significant depression symptoms in OA patients, yet no comparable research has been conducted in KBD patients. Methods: We conducted a field investigation in KBD areas in Northwest
Ye Liu, Yan Wen, Zhengjun Yang, Ruixue Zhou, Jingni Hui, Cheng Li, Gangyao Xu, Chan Liu, Huan Liu, Bolun Cheng, Yumeng Jia, Xianni Guo, Feng Zhang, Ruhai Bai   +13 more
wiley   +1 more source

Molecular genetics of too much bone

, 2002
Bone remodelling is an important process both throughout growth and in adult life. The homeostasis of bone tissue is maintained by the balanced processes of bone resorption and formation.
Janssens, Katrien, Wim Van Hul, Van Hul, Wim, Katrien Janssens   +3 more
core   +1 more source

Geometric growth of the normal human craniocervical junction from 0 to 18 years old

Journal of Anatomy, Volume 245, Issue 6, Page 842-863, December 2024.
This research investigates the growth dynamics of the craniocervical junction (CCJ) in children. By compiling geometric models of normal skull base growth and analysing closure patterns of synchondroses and sutures, it reveals distinct developmental trajectories and covariations between CCJ bones.
Juliette Raoul‐Duval, Angèle Ganet, Sandro Benichi, Pauline Baixe, Clara Cornillon, Lou Eschapasse, Maya Geoffroy, Giovanna Paternoster, Syril James, Sébastien Laporte, Thomas Blauwblomme, Roman H. Khonsari, Maxime Taverne   +12 more
wiley   +1 more source

Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I

Acta Médica del Centro, 2015
Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández, Noel Taboada Lugo, Lourdes Rodríguez Royero, Eliecer Anoceto Armiñana   +3 more
doaj  

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Iranian Journal of Medical Sciences, 2016
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction.
Efat Khorasani, Rahim Vakili
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