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What is Ondine ’ s Curse?
Discussion Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant with variable inheritance genetic disease caused by mutation in the Paired Like Homeobox B2 (PHOX2B) gene on chromosome 4. There are two other genes which may also cause CCHS. CCHS affects the chemoreceptor afferent ventilation pathways and is a neural crest migration problem of the autonomic nervous system. The incidence is unknown but a prevalence of 1 in 200,000 live births has been reported. Obviously it is a rarer phenomenon because of the general lethality of the syndrome. Patients usually present at birth or soon afterwards, but o...
Source: PediatricEducation.org - August 15, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What Are the Main Acyanotic Congenital Heart Diseases?
Discussion Congenital heart diseases (CHD) are malformations of the heart and great vessels. It occurs in about 5-8/1000 live births. Cyanotic congenital heart disease is often noted perinatally because of cyanosis, respiratory distress and/or poor feeding or other distress type problems. A review can be found here. Acyanotic congenital heart disease (ACHD) can present at birth but often is seen in older children or adults unless the lesions are severe, especially obstructive lesions. Severe lesions may also cause cyanosis and distress type problems in patients also. Shunting lesions cause problems by diverting blood flo...
Source: PediatricEducation.org - August 17, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What Causes Microcephaly?
Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births. The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several diff...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news