Clitoral hypoplasia Breast aplasia Osteochondritis Dissecans Absent glenoid fossa Cyanosis Respiratory insufficiency due to muscle weakness Wide nasal bridge Carcinoma Immunodeficiency Pneumonia Thrombocytopenia Coma Rigidity Respiratory tract infection Splenomegaly [mendelian.co]

The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. [kmle.co.kr]

lymphoma Hypoplasia of the odontoid process High hypermetropia Macrocytic anemia Reduced tendon reflexes Mesomelia Basal cell carcinoma Femoral bowing Abnormality of the hip bone Short thorax Squamous cell carcinoma Portal hypertension Dysphagia Tibial [mendelian.co]

Browse recently published Learning/CME Learning/CME View all learning/CME CME Conservative Oxygen Therapy during Mechanical Ventilation in the ICU Case 8-2020: An 89-Year-Old Man with Recurrent Abdominal Pain and Bloody Stools Complications of Unsafe [nejm.org]

Browse recently published Learning/CME Learning/CME View all learning/CME CME Conservative Oxygen Therapy during Mechanical Ventilation in the ICU Case 8-2020: An 89-Year-Old Man with Recurrent Abdominal Pain and Bloody Stools Complications of Unsafe [nejm.org]

Respiratory insufficiency due to muscle weakness Wide nasal bridge Carcinoma Immunodeficiency Pneumonia Thrombocytopenia Coma Rigidity Respiratory tract infection Splenomegaly Autoimmunity Cognitive impairment Clinodactyly of the 5th finger Ophthalmoplegia Hepatomegaly [mendelian.co]

A premature newborn male was clinically diagnosed as CRS with cataracts, congenital heart defects, microcephaly, hepatosplenomegaly, and thrombocytopenia. The infection was confirmed serologically and molecularly. [biomedsearch.com]

Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]

Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Case 3-2019: A 70-Year-Old Woman with Fever, Headache, and Progressive Encephalopathy Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura Randomized [nejm.org]

[…] autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune polyglandular syndrome, type 1, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune thrombocytopenia, see immune thrombocytopenia autoimmune thrombocytopenic purpura [herenciageneticayenfermedad.blogspot.com]

Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) anaemia, haemolytic, congenital [kmle.co.kr]

Symptoms include an infant with an enlarged liver and spleen, swelling, jaundice and anaemia. (27 Sep 1997) congenital antithrombin III deficiency Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. [kmle.co.kr]