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http://dx.doi.org/10.1289/ehp.111-a869a | DOI Listing |
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neonatology, Children's Hospital of Soochow University, Suzhou, China.
This study investigated the correlation between quantitative echocardiographic characteristics within 3 days of birth and necrotizing enterocolitis (NEC) and its severity in preterm infants. A retrospective study was conducted on 168 preterm infants with a gestational age of < 34 weeks. Patients were categorized into NEC and non-NEC groups.
View Article and Find Full Text PDFRadiol Clin North Am
March 2025
Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Pediatric patients are affected by a wide variety of pulmonary vascular diseases ranging from congenital anomalies diagnosed at birth to acquired diseases that present later in childhood and into adolescence. While some pulmonary vascular diseases present similarly to those seen in adults, other forms are unique to children. Knowledge of the characteristic imaging features of these diseases is essential to facilitate prompt diagnosis and guide clinical management.
View Article and Find Full Text PDFMedicina (Kaunas)
January 2025
Dermatology Unit, Ospedale di Circolo Fondazione Macchi, ASST Sette Laghi, 21100 Varese, Italy.
Midline Anterior Neck Inclusion Cysts (MANICs) are rare congenital anomalies caused by improper embryonic fusion. These superficial benign lesions typically appear yellowish and cystic without deeper anatomic connections. We describe an 11-month-old boy with a stable, asymptomatic, yellow, elastic cystic lesion on the midline of the anterior neck, measuring 4 mm and present since shortly after birth.
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