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Home > Diseases-Disorders II > Neonatal-Abnormalities --- No Additional Subcategories
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APGAR Scoring for Newborns -
Learn about your baby's first test from

Abnormal Development - Trisomy 18 (Edwards Syndrome)
First recognized as a specific clinical entity by the discovery of an extra chromosome 18 in babies with a particular pattern of malformation by three independent groups (Edwards et al., Patau et al., Smith et al.).

Abnormal Neonatal EEG : Article by Rosalia C Silvestri-Hobson, MD
Abnormal Neonatal EEG - Over the past several decades, electroencephalography (EEG) in newborn infants has become valuable as a serial, noninvasive screening tool for infants at high risk of perinatal injuries. The brain dynamics and connectivity in different states (awake or asleep) can be defined, and a whole range of acute or chronic cerebral disorders can be identified. Such information often reveals presymptomatic or subclinical conditions.The EEG prognostic value at the time of continuous development ...

Acanthocytosis : Article by Frank E Shafer, MD
Acanthocytosis - The term acanthocyte is derived from the Greek word acantha, meaning thorn. Acanthocytes are dense, contracted red blood cells with multiple thorny projections or spicules. The thornlike surface protrusions vary in width, length, and surface distribution. Acanthocytic morphology is attributed to changes in the composition of the red blood cell membrane lipids and their altered distribution between the 2 hemi leaflets of the lipid bilayer. Acanthocytes must be distinguished from echinocytes (from the Greek word echinos, meaning urchin

Acardiac Twin or TRAP Sequence: Learn More
This is a very rare problem, happening on average once in every 35,000 pregnancies. One twin is usually completely normal. The other is body-like tissue, often with legs and a lower body, but no upper body or heart. Abnormal blood vessels on the placental surface allow the normal twin (aka pump twin) to pump blood though the tissue of the abnormal one.

Aicardi Syndrome
Aicardi Syndrome

Aicardi Syndrome : Article by Marc P Difazio, MD
Aicardi Syndrome - Dr Jean Dennis Aicardi, a French neurologist, in 1965 described 8 children with infantile spasm-in-flexion, agenesis of the corpus callosum, and variable ocular abnormalities. This clinical scenario, already described in 1949, was recognized as an entity distinct from congenital infections. An additional 7 patients were described in 1969, and in 1972 Dennis and Bower established the Aicardi syndrome designation.Further patient study demonstrated other less consistent characteristics outside the classic triad of findings. These ...

Aicardi Syndrome Information Page: National Institute of Neurological Disorders
Aicardi Syndrome information sheet compiled by NINDS.

Alveolar Proteinosis : Article by David J Vaughan, MBBCh
Alveolar Proteinosis - Rosen first described pulmonary alveolar proteinosis (PAP) in 1958 in a case series consisting of 27 patients, 2 of whom were children. PAP is an extremely rare cause of respiratory failure in the pediatric age group. It is characterized by intraalveolar accumulation of lipid and proteinaceous material, which is periodic acid-Schiff (PAS) positive, which is associated clinically with increased work of breathing and derangement of gas exchange. It is a fascinating illness, in particular because of the ...

Amniotic Band Syndrome - ABS is a set of congenital birth defects -
Amniotic Band Syndrome - Amniotic Band Syndrome is a set of congenital birth defects. Learn about ABS, read personal stories, and add your story to the site. Amniotic Band Syndrome is a set of congenital birth defects. Learn...

Amniotic Banding
Amniotic Banding (also known as Constriction Band Syndrome) is a very rare birth condition caused by the rupture of the amniotic sac early in the pregnancy. The amnion ruptures and then falls away, leaving the developing fetus exposed and unprotected from the fiberous tissues of the placenta. The Chorion portion of the placenta is made up of fiberous tissues which float in the waters of the uterus and can, without the protection of the anmiotic sac, become tangled in the developing appendages of the fetus, thus creating the characteristic amniotic bands that are seen on these infants.

Amniotic band syndrome
Amniotic band syndrome is a set of congenital malformations ranging from minor constriction rings and lymph­edema of the digits to complex, bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts.

Angelman Syndrome - K12 Academics
Your Definitive Education Resource Website for the United States. Updated Daily. K12 Academics

Aortic Stenosis, Valvar : Article by Paul Seib, MD
Aortic Stenosis, Valvar - Congenital heart disease occurs in 8 of 1000 live births. Aortic valve stenosis results from minor to severe degrees of aortic valve maldevelopment. This causes mild-to-severe obstruction to left ventricular outflow that may be associated with other cardiac or extracardiac malformations. This article focuses on presentation, clinical features, and therapeutic options associated with aortic valve ...

Apnea of Prematurity : Article by Rene L Santin, MD
Apnea of Prematurity - A fetus makes breathing movements from early in pregnancy, although the purpose of fetal breathing is unknown. Breathing is intermittent in the fetus and becomes continuous after birth. The mechanisms that cause the transition from intermittent fetal breathing to continuous neonatal breathing remain unelucidated. All premature neonates, as well as most full-term neonates, have apnea, which is defined as pauses in their breathing pattern. In most instances, this apnea is brief and causes no physiologic ...

Asplenia : Article by Mudra Kumar, MD, MBBS, MRCP
Asplenia - Absent or defective splenic function is associated with a high risk of fulminant bacterial infections and a high mortality rate. Asplenia and splenic hypoplasia are terms used to indicate complete or partial lack of splenic function. Loss of splenic function usually occurs as a result of surgical removal or autosplenectomy, ie, infarction in patients with hemoglobinopathies. Congenital splenic anomalies are usually accompanied by abnormalities in other organ systems, especially cardiac abnormalities, but they may occur ...

Assisted Ventilation of the Newborn : Article by Wally Carlo, MD
Assisted Ventilation of the Newborn - The primary objective of assisted ventilation is to support breathing until the patient's respiratory efforts are sufficient. Ventilation may be required during immediate care of the infant who is depressed or apneic or during prolonged periods of treatment of respiratory failure. Improved survival from advances in neonatal care has resulted in an increased number of infants at risk for chronic lung disease. Even though the etiology of lung injury is multifactorial, recent animal and ...

Ataxia Telangiectasia Information Page: National Institute of Neurological Disor
Ataxia telangiectasia (A-T) information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Ataxia Telangiectasia: Fact Sheet - National Cancer Institute
Ataxia telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body. An immunodeficiency disease is one that causes the immune system to breakdown, making the body susceptible to diseases.

Ataxia telangiectasia
Genes and Disease provides an introduction to the relationship between genetic factors and human disease with a summary of ~60 genetic diseases with links to related databases and organizations. National Library of Medicine (US), NCBI.

Bardet-Biedl Laurence-Moon Syndroom/History
Een Belgische site over het Bardet-Biedl Laurence-Moon Syndroom.

Barth Syndrome
X-linked Cardiomyopathy and Neutropenia

Bartter Syndrome : Article by Prasad Devarajan, MD
Bartter Syndrome - Bartter syndrome, originally described by Bartter and colleagues in 1962, is known today to represent a set of closely related renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal BP. The underlying renal abnormality results in excessive urinary losses of sodium, chloride, and potassium. Recent advances in molecular diagnostics revealed that the Bartter syndrome is the expression of 1 of 3 distinct clinical and genetic entities: neonatal Bartter syndrome, classic Bartter ...

Batten Disease Information Page: National Institute of Neurological Disorders an
Batten Disease information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

Beckwith-Wiedemann Syndrome : Article by Robert J Ferry, Jr, MD
Beckwith-Wiedemann Syndrome - In Germany in 1964, Hans-Rudolf Wiedemann reported a familial form of omphalocele with macroglossia. J Bruce Beckwith at Loma Linda University (Loma Linda, California) described a similar series of patients in 1969. Originally, Professor Wiedemann coined the term EMG syndrome to describe the combination of congenital exomphalos, macroglossia, and gigantism. Over time, this constellation was renamed Beckwith-Wiedemann syndrome ...

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