Results 81 to 90 of about 11,217 (226)

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source

Pectus carinatum, small pneumothorax, and Brugada patterns: First description and pathophysiological analysis

Clinical Cardiology and Cardiovascular Interventions
Pectus carinatum is a chest wall deformity where the breastbone and ribs protrude outward, sometimes referred to as “pigeon chest” due to the bird-like appearance of the chest.
A. J. Bermejo Valdés
semanticscholar   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Noonan syndrome with somnambulism: A rare case report

Industrial Psychiatry Journal, 2020
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000–2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed ...
Samiksha Sahu, Suprakash Chaudhury, Daniel Saldanha   +2 more
doaj   +1 more source

Determining factors associated with chest wall thickness for emergency needle decompression in Thai population

Hong Kong Journal of Emergency Medicine, Volume 32, Issue 5, October 2025.
Abstract Objectives Needle decompression is a lifesaving procedure; however, the success rate may be limited. Chest wall thickness (CWT) is an important factor related to the success rate. This study aimed to identify the optimal anatomical site for needle decompression by comparing CWT and predicted risk of vital organ injury across three locations. A
Chatinan Yusuk, Tanawin Sakarin, Siriwimon Tantarattanapong, Panjai Choochuen   +3 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy [PDF]

, 2016
Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system.
Anikster, Y, Baze, WB, Bitterman-Deutsch, O, Chasnyk, N, Chopra, AK, Falik Zaccai, TC, Fitts, EC, Gahl, WA, Geiger, D, Gross, B, Kalfon, L, Keren, Z, Kirtley, ML, Kleta, R, Kornitzer, D, Mullikin, JC, Peterson, JW, Pinchuk, IV, Samra, N, Samson, AO, Savitzki, D, Shoval, Y, Straussberg, R, Teer, JK, Vilboux, T, Wakamiya, M, Zivony-Elboum, Y   +26 more
core   +1 more source

Kinesitherapeutic Approach towards Pectus Carinatum Deformity: A Clinical Case [PDF]

, 2022
Introduction: A protruding chest is an overgrowth of the rib cartilage that causes protrusion of the sternum due to rapid growth during puberty, vitamin D deficiency, hereditary transmission, and others. The deformity "pectus carinatum" can be classified
Bogomilova, Stanislava, Kurteva, Iliana, Marinova, Siyana   +2 more
core   +2 more sources

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian, Babak Abdinia, Kia Seyed Toutounchi, Mohammad Saberi, Shabnam Eskandarzadeh   +4 more
wiley   +1 more source