Results 41 to 50 of about 2,852 (190)

A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Case Reports in Medicine, 2013
Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation.
Çapan Konca, Bahar Caliskan, Mehmet Ali Tas   +2 more
doaj   +1 more source

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

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

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

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

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

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

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

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 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