Showing 21-36 of 36 for: Essential Evidence Topics > Congenital problems 
- Muscular dystrophy
Essential Evidence Topics, 10-Apr-2023
Overall Bottom Line: Patients typically present with mild hypotonia at birth and delayed milestones; by the age of 5 years, greater proximal weakness than distal weakness is apparent. If Duchenne muscular dystrophy (DMD) is suspected, order creatine kinas
- Myelomeningocele
Essential Evidence Topics, 23-Nov-2021
Overall Bottom Line: Ninety-five percent of myelomeningoceles are diagnosed prenatally with the combination of ultrasound and alpha-fetoprotein on maternal serum. Patients are prone to neurogenic bladder and pathologic bone fractures. Periconceptual fol
- Neural tube defects
Essential Evidence Topics, 1-Nov-2022
Overall Bottom Line: Low-risk women should take 400 μg of folic acid daily for at least 1 month prior to conception to reduce the rate of neural tube defects (NTDs) by 70%; high-risk women should take 4 mg of folic acid daily for at least 1 month prior to
- Phenylketonuria
Essential Evidence Topics, 27-May-2021
Overall Bottom Line: All newborns should be screened for phenylketonuria (PKU) between 24 and 168 hours of life. A low-phenylalanine diet should be started upon diagnosis and continued throughout life.
- Polycystic kidney disease
Essential Evidence Topics, 28-Sep-2020
Overall Bottom Line: Polycystic kidney disease (PKD) is an inherited disorder that primarily affects the kidneys resulting in the formation of multiple fluid filled cysts, along with a variety of extrarenal manifestations. It is broadly divided into 2 for
- Pyloric stenosis
Essential Evidence Topics, 14-Mar-2023
Overall Bottom Line: Infants who are exposed to macrolides, especially in the first 2 weeks of life, are at increased risk for pyloric stenosis (PS). Palpation of the olive has a positive predictive value of 99.3%. Ultrasound findings of pyloric muscl
- Retinitis pigmentosa
Essential Evidence Topics, 2-Mar-2023
Overall Bottom Line: Patients may be asymptomatic, but may complain of nyctalopia (night blindness) and clumsiness at night. Ophthalmologic examination reveals visual field constriction, optic nerve pallor, retinal vascular attenuation, and peripheral r
- Severe combined immunodeficiency
Essential Evidence Topics, 3-Aug-2021
Overall Bottom Line: Suspect severe combined immunodeficiency (SCID) in infants presenting with severe respiratory infections, persistent oral thrush, persistent diarrhea, failure to thrive, and age-related lymphopenia. Refer suspected cases to an immuno
- Spinal muscular atrophy
Essential Evidence Topics, 24-Jun-2022
Overall Bottom Line: Genetic testing for spinal muscular atrophy (SMA) may be done to predict the risk of disease with related offspring but is not routinely recommended. Any child with delay in achieving motor developmental milestones should be evaluat
- Thalassemia
Essential Evidence Topics, 10-Aug-2022
Overall Bottom Line: All pregnant women should have a complete blood count (CBC) to assess their risk for anemia and hemoglobinopathy. A CBC is the initial test in any patients suspected of having thalassemia. Findings of mild anemia with low mean corpus
- Thyroglossal duct cyst
Essential Evidence Topics, 16-Jul-2021
Overall Bottom Line: On examination, movement of a midline neck mass with deglutition and tongue protrusion suggests a thyroglossal duct cyst (TGDC). Confirm a normally functioning thyroid gland by palpation of the thyroid gland during physical examinat
- Toxoplasmosis
Essential Evidence Topics, 28-Jul-2021
Overall Bottom Line: Most patients with acute primary toxoplasmosis are asymptomatic. In the eye, toxoplasma primarily affects the retina and choroid, usually in the periphery. In immunocompromised patients, especially people living with HIV, Toxoplasm
- Tuberous sclerosis
Essential Evidence Topics, 27-Mar-2023
Overall Bottom Line: Consider tuberous sclerosis in a child seen with epilepsy, cardiac dysfunction, or hypomelanotic macules. Tuberous sclerosis complex (TSC) is an autosomal dominant condition. Consider screening family members of patients with known
- Turner syndrome
Essential Evidence Topics, 30-Jan-2022
Overall Bottom Line: Consider karyotyping girls with unexplained short stature for Turner syndrome. Early diagnosis is optimal, so treatment with human growth hormone (hGH) can be initiated as soon as possible. Standard therapy includes hGH and estrad
- Umbilical hernia
Essential Evidence Topics, 11-Nov-2022
Overall Bottom Line: The vast majority of umbilical hernias in childhood resolve spontaneously. Immediate surgery is indicated for a preceding history of an irreducible umbilical hernia and localized umbilical tenderness. Asymptomatic, persistent umbi
- Von Willebrand disease
Essential Evidence Topics, 23-Jul-2021
Overall Bottom Line: Von Willebrand disease (VWD) is the most common inherited autosomal bleeding disorder. A detailed hemostatic personal and family history is the most cost-effective initial diagnostic tool. If VWD is suspected, order the VWD profil
