ABSTRACT
Pfeiffer syndrome is a rare form of acrocephalosyndactyly It is characterized by craniosynostosis involving one or more sutures resulting in abnormal skull shape and facial dysmorphism. Broad medially deviated distal phalanges of thumbs and big toes with soft tissue syndactyly are typical. Various multisystem anomalies have been reported as infrequent associations of this syndrome. A case of an infant with the typical features along with the uncommon associations of hydrocephalus and tracheomalacia is reported. The literature is briefly reviewed for clinical features, classification, genetic basis and management
Subject(s)
Humans , Male , Acrocephalosyndactylia/surgery , Acrocephalosyndactylia/genetics , Cephalometry , Hydrocephalus , Syndrome , Trachea/abnormalitiesABSTRACT
Maternal pemphigus can result in a spectrum of clinical manifestations in her offspring, including prematurity and still-birth. Neonatal pemphigus is a rare transient blistering condition due to transplacental transfer of maternal antibodies. It seldom requires specific treatment. The case of a baby with large skin erosion which healed spontaneously within six days is reported
Subject(s)
Humans , Female , Pemphigus/pathology , Pregnancy Complications , Autoantibodies , Biopsy , Immunohistochemistry , Prognosis , Rare Diseases , Maternal-Fetal Exchange , BlisterABSTRACT
Non-typhoidal salmonellae are infrequent causes of childhood meningitis. Most reports of S. typhimurium meningeal infections are confined to neonates. A rare instance of S typhimurium meningitis in an otherwise healthy five month old infant is being reported
Subject(s)
Humans , Male , Salmonella typhimurium/pathogenicity , Salmonella Infections , Infant , Salmonella typhimurium/isolation & purificationABSTRACT
Goldenhar syndrome is characterized by a derangement in the morphogenesis of the first and second branchial a rches. Vertebral, ocular and cardiac anomalies are occasionally encountered in such children. A rare association of Goldenhar syndrome with situs inversus totalis and multiple cardiac malformations is reported