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Double left brachiocephalic vein in a paediatric patient with CHD: a case report.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Paediatric Cardiothoracic Surgery, Sri Satya Sai Sanjeevani Centre for Child Heart Care and Training in Pediatric Cardiac Skills, Atal Nagar- Nava Raipur 492101, Chhattisgarh Atal Nagar-Nava Raipur, India.
Anomalous brachiocephalic vein (ABCV) is a rare entity of head and neck venous channel variations and malformations. Amongst the five subtypes of ABVC, double left brachiocephalic vein (DLBCV) is the rarest. We present the case of a 1-year-11-month-old syndromic child, who had global developmental delay (GDD) with Sprengel deformity and failure to thrive (suspected Klippel Feil phenotype), who presented to us for the cardiac evaluation.
View Article and Find Full Text PDFA two-month-old developmentally normal full-term female presented with severe feeding intolerance, progressive weight loss, and persistent fussiness, leading to multiple emergency department visits and eventual hospitalization. Initial evaluations, including laboratory tests and imaging, were unremarkable, prompting a series of diagnostic and therapeutic interventions. A multidisciplinary approach, including empiric gastroesophageal reflux disease (GERD) therapy, was started.
View Article and Find Full Text PDFFailure to thrive: A proposed diagnostic approach.
Arch Argent Pediatr
January 2025
Universidade Estadual de Campinas - UNICAMP, Campinas, SP, Brazil.
Failure to thrive is a general term describing infants who do not reach weight, length, or body mass index expected for their age. It can be related often to malnutrition due to inadequate caloric and protein intake, but also to excessive loss of nutrients, inadequate metabolism, inadequate absorption, or excessive caloric and energy expenditure. It may be either organic or inorganic in origin, and in most cases, does not require investigation through complementary examinations.
View Article and Find Full Text PDFDrayer Syndrome due to Chromosome 15q26.3 Deletion: Response to Growth Hormone Treatment.
Sisli Etfal Hastan Tip Bul
December 2024
Division of Pediatric Endocrinology, Department of Pediatrics, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Türkiye.
Chromosome 15q26 deletion is a rare condition that causes short stature and is associated with intrauterine growth restriction (IUGR), failure to thrive, congenital heart disease and many congenital malformations. The insulin growth factor receptor (IGF-1R) on chromosome 15 has many important roles, especially in growth regulation. Our case is an 18-month-old small for gestational age girl who presented with severe short stature, microcephaly and minor dysmorphic features.
View Article and Find Full Text PDFTrichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
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