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This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.

This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.

This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.

Adding diltiazem to a beta blocker can cause dangerously slow heart rates.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This case report documents the second known instance of a salivary gland choristoma on the chest wall of a newborn, highlighting its benign nature and the importance of accurate diagnosis.

This case report describes a 19-year-old patient with undiagnosed severe portopulmonary hypertension who experienced acute right ventricular failure and cardiac arrest following liver transplantation, subsequently managed with ECMO and a paracorporeal lung-assist device.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This study found that individuals with a nondipper blood pressure pattern had higher 24-hour urinary aldosterone levels, suggesting a possible link to heart issues.

This case study describes a 17-year-old girl initially thought to be experiencing a Crohn disease exacerbation, but ultimately found to have a trichobezoar causing small bowel obstruction.

In this case report, a 21-year-old male was observed to have primary essential cutis verticis gyrata, a condition characterized by the excessive formation of scalp folds resembling cerebral gyri, without any additional comorbidities.

This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.

This study found that children with classic congenital adrenal hyperplasia had elevated epicardial fat thickness, which was associated with increased carotid intima media thickness, left ventricular mass, and mitral deceleration time.

This case study reports a 60-year-old woman's clinical findings related to hypothyroidism and elevated prolactin levels but does not present new research results.

This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.

This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.

In this case report, the researchers highlight a possible association between myotonic dystrophy type 1 and multiple tongue hemangiomas, and emphasize that patients with this condition can experience exacerbated respiratory muscle weakness and risk of respiratory failure even with epidural anesthesia.

This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.

This case report highlights the importance of thorough examination in detecting ectopic thyroid glands in patients with borderline congenital hypothyroidism identified during newborn screening, as early intervention can prevent future complications and improve outcomes.

This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.

This case study reports a rare instance of ectopic ACTH secretion from a primary lung neuroendocrine tumor in a young woman, highlighting successful diagnosis and treatment following symptoms of Cushing syndrome, with normalization of ACTH, glucose, and cortisol levels post-surgery.

This study observed that severe bronchitis may occur in individuals with anhidrotic ectodermal dysplasia when exposed to a dusty environment, potentially due to abnormalities in the bronchial mucosa.

This case report describes a 47-year-old woman with dilated cardiomyopathy as the first sign of primary antiphospholipid syndrome, highlighting the need for APS screening in similar patient presentations.

Dihydrotestosterone (DHT) worsens heart enlargement, and blocking it may help prevent heart issues.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This piece discusses the conditions of three children with disparate symptoms—suggesting silent aspiration, exogenous androgen exposure, and long QT syndrome—and emphasizes comprehensive assessment and history for correct diagnosis and management.