ABSTRACT
We report a case of VACTERL complex which had concomitant horseshoe lung, laryngeal cleft, and hypertrophic pyloric stenosis, which has not been previously reported.
Subject(s)
Abnormalities, Multiple/genetics , Digestive System Abnormalities/genetics , Heart Defects, Congenital/genetics , Larynx/abnormalities , Lung/abnormalities , Pyloric Stenosis, Hypertrophic/genetics , Spine/abnormalities , Urogenital Abnormalities/genetics , Abnormalities, Multiple/diagnostic imaging , Angiography , Consanguinity , Digestive System Abnormalities/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Humans , Infant , Infant, Newborn , Karyotyping , Larynx/diagnostic imaging , Lung/diagnostic imaging , Male , Phenotype , Pulmonary Artery/abnormalities , Pulmonary Artery/diagnostic imaging , Pulmonary Veins/abnormalities , Pulmonary Veins/diagnostic imaging , Pyloric Stenosis, Hypertrophic/diagnostic imaging , Spine/diagnostic imaging , Tomography, X-Ray Computed , Turkey , Urogenital Abnormalities/diagnostic imagingABSTRACT
We present a neonate with cephalohematoma complicated by a linear skull fracture and Staphylococcus epidermidis meningitis. Clinicians, especially neonatologists, should be aware that a cephalohematoma in the newborn infant with a history of vacuum-assisted delivery could be the origin or trigger point of the infection either as sepsis, meningitis or osteomyelitis. The utmost importance of screening studies should be emphasized in order to be aware of the pathogenic potential of cephalohematomas.
Subject(s)
Hematoma/diagnosis , Meningitis, Bacterial/diagnosis , Skull Fractures/diagnosis , Staphylococcal Infections/diagnosis , Hematoma/etiology , Humans , Infant, Newborn , Male , Meningitis, Bacterial/complications , Skull Fractures/complications , Staphylococcal Infections/complications , Vacuum Extraction, Obstetrical/adverse effectsABSTRACT
Pseudoachondroplasia is an autosomal dominant variant of osteochondroplasia that results in mild to severe short-limb dwarfism and early-onset of osteoarthrosis. It has been linked to results from mutations in the gene for cartilage oligomeric matrix protein. We describe a 4-year-old boy with pseudoachondroplasia who also had prolapse of the mitral valve. To the best of our knowledge, this association has not previously been reported.
Subject(s)
Mitral Valve Prolapse/complications , Osteochondrodysplasias/complications , Child, Preschool , Echocardiography , Humans , Male , Mitral Valve Prolapse/diagnostic imagingABSTRACT
Common systemic disorders that cause cerebral venous thrombosis (CVT) in children include dehydration, trauma, infection and haematological diseases. No cause for CVT is identified in one quarter of all cases. We report a child with thalamic infarcts due to internal CVT who had congenital heterozygous protein-C deficiency, factor V G 1691 A and A 4070 G mutations.
