Results 51 to 60 of about 3,083 (188)

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Dilatation of the Great Arteries in an Infant with Marfan Syndrome and Ventricular Septal Defect

Case Reports in Medicine, 2011
We describe an infant presenting with contractures of the fingers, a large ventricular septal defect (VSD), and severe pulmonary artery dilatation. He had clinical and echocardiographic features of both neonatal or infantile Marfan syndrome (MFS) and ...
L. Rozendaal, N. A. Blom, Y. Hilhorst-Hofstee, A. D. J. Ten Harkel   +3 more
doaj   +1 more source

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations

Haemophilia, Volume 32, Issue 1, Page 185-194, January/February 2026.
ABSTRACT Background In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers–Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (
Perla Bandini, Nina Borràs, Carme Altisent, Judith Sánchez‐Raya, Laura Martin‐Fernandez, Iris Garcia‐Martínez, Natàlia Comes, Lorena Ramírez, Marta Martorell, Carlos Hobeich, Francisco Vidal, Irene Corrales   +11 more
wiley   +1 more source

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick, Aneek Das Bhowmik   +3 more
wiley   +1 more source

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities

Diagnostics, 2022
Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations.
Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb, Syrine Hizem, Vladimir Kenis, Franz Grill, Susanne Gerit Kircher, Mohammad Shboul, Farid Ben Chehida   +11 more
doaj   +1 more source

Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau Syndrome

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Snijders Blok–Campeau syndrome is caused by a heterozygous CHD3 pathogenic variant, and characterized by features including macrocephaly, speech delay, hypotonia, and joint laxity. In the hereby‐presented case, a Japanese girl with Snijders Blok–Campeau syndrome displayed bilateral middle finger camptodactyly and early‐onset scoliosis, beyond the ...
Masaki Miura, Yu Kobayashi, Moemi Hojo, Kei Yamada, Hitomi Fujii, Keiko Eimori, Kumiko Yanagi, Tadashi Kaname, Keisuke Nagasaki, Hiromi Nyuzuki, Takeshi Ikeuchi, Jun Tohyama, Irfan Ahmad   +12 more
wiley   +1 more source

SCOLIOSIS, BLINDNESS AND ARACHNODACTYLY IN A LARGE TURKISH FAMILY: IS IT A NEW

, 2008
Scoliosis, blindness and arachnodactyly in a large Turkish family is it a new-syndrome?: In this report we have described in affected sib in a large Turkish family who appears to have it new distinct dominantly-inherited blindness.
Erkilic, K., ÇAĞLAYAN, AHMET OKAY, Koseoglu, E., Comeglio, P., Argun, M., Child, A. H., Matyas, G., DÜNDAR, MUNİS   +7 more
core   +1 more source

A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members

Genetics Research , Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene. Using whole‐exome sequencing (WES) in a Chinese MFS family, we identified a novel heterozygous nonsense variant FBN1:c.1415dup;p.(Tyr472Ter), which cosegregates with the disease phenotype and results in protein truncation ...
Hang Shi, Xuejian Han, Shukai Xing, Yuetong Zhao, Yanyan Wang, Mengtao Yun, Yang Lou, Xiaobo Cui, Baichun Wang, Xiangning Meng, Irfan Ahmad   +10 more
wiley   +1 more source

A case of de novo duplication of 15q24-q26.3 [PDF]

Korean Journal of Pediatrics, 2011
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations.
Eun Young Kim, Yu Kyong Kim, Mi Kyoung Kim, Ji Mi Jung, Ga Won Jeon, Hye Ran Kim, Jong Beom Sin   +6 more
doaj   +1 more source

Type B Aortic Dissection Following Abdominal Aortic Aneurysm Repair in Loeys–Dietz Syndrome: A Novel TGFBR1 Variant

Human Mutation, Volume 2026, Issue 1, 2026.
Loeys–Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by aggressive aortic pathology, primarily caused by pathogenic variants in genes such as TGFBR1. We report a 44‐year‐old female with a known LDS diagnosis who presented with a symptomatic, rapidly expanding abdominal aortic aneurysm (44.8 mm) with concurrent ...
Yuchong Zhang, Shouji Qiu, Chengkai Hu, Li Zhang, Wei Guo, Weiguo Fu, Lixin Wang, Finlay Macrae   +7 more
wiley   +1 more source