Results 61 to 70 of about 39,956 (278)

Novel Physique Index for the Screening of Skeletal Dysplasia at Birth

Children, 2021
This study aimed to devise a novel physique index and investigate its accuracy in identifying newborns with skeletal dysplasia in comparison with head circumference (HC)/height (HT) ratio.
Ryoji Aoki, Nobuhiko Nagano, Aya Okahashi, Shoko Ohashi, Yoshinori Fujinaka, Itsuro Takigawa, Ken Masunaga, Ichiro Morioka   +7 more
doaj   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Mazabraud syndrome:benign intramuscular myxoma with fibrous skeletal dysplasia [PDF]

, 2011
A 51-year-old woman presented with a soft-tissue swelling of the thigh. A MRI scan of the thigh showed an intramuscular lesion and bone-marrow abnormalities in the femur. A bone scintigraphy and PET/CT-scan showed multiple hotspots in the skeleton.
Moll, Freek C P, de Vries, J E, IJpma, Frank F A, Mostert, Adriaan K, Flach, H Zwenneke   +4 more
core   +2 more sources

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

Frontiers in Genetics, 2023
The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal ...
Xueping Shen, Zhi Li, Xuekui Pan, Juan Yao, Guosong Shen, Su Zhang, Minyue Dong, Minyue Dong, Lihong Fan   +8 more
doaj   +1 more source

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

Ultrasonic demonstration of fetal skeletal dysplasia : case reports [PDF]

, 1985
ArticleThe original publication is available at http://www.samj.org.zaReports on prenatal diagnosis in cases of skeletal dysplasia have mostly been in high-risk mothers with a suspect genetic background where the fetal lesion could probably be ...
Cremin, B. J., Muller, L. M.
core  

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study

Orphanet Journal of Rare Diseases, 2023
Background Skeletal dysplasias are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient’s functionality. The worldwide prevalence of skeletal dysplasias at birth is approximately 1:5000 births.
Yasas D. Kolambage, Yasaswi N. Walpita, Udari A. Liyanage, Buddika M.K.D.R. Dayaratne, Vajira H.W. Dissanayake   +4 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source