Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Malformations of organs or body parts during development in utero.
Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others.
Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Congenital absence of or defects in structures of the teeth.

Acquired Pelger-Huet anomaly in association with concomitant tacrolimus and fluconazole therapy following allogeneic bone marrow transplantation. (1/18)

A 38-year-old Japanese woman with severe aplastic anemia received an allogeneic bone marrow transplant from her serologically HLA-identical father. Cyclosporine and methotrexate were administered to prevent graft-versus-host disease (GVHD). However, grade III acute GVHD developed on day 44, which was successfully treated with methylprednisolone and tacrolimus. Fluconazole therapy was started for oral candidiasis on day 112, but she complained of headache soon after. In addition to glycosuria and increased serum creatinine levels, Pelger-Huet anomaly of granulocytes was found in her blood, which disappeared after discontinuation of tacrolimus. Transient occurrence of Pelger-Huet cells may be associated with tacrolimus toxicity due to drug interaction with fluconazole.  (+info)

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. (2/18)

The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great interest because mutations at this locus cause marked abnormalities in nuclear heterochromatin, similar to those observed in Pelger-Huet anomaly (PHA). We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved in nuclear assembly and chromatin binding. Mice homozygous for deleterious alleles at the ichthyosis (ic) locus present with a blood phenotype similar to PHA, and develop other phenotypic abnormalities, including alopecia, variable expression of syndactyly and hydrocephalus. The ic locus on mouse chromosome 1 shares conserved synteny with the chromosomal location of the human LBR locus on human chromosome 1. In this study, we identified one nonsense (815ins) and two frameshift mutations (1088insCC and 1884insGGAA) within the Lbr gene of mice homozygous for either of three independent mutations (ic, ic(J) and ic(4J), respectively) at the ichthyosis locus. These allelic mutations are predicted to result in truncated or severely impaired LBR protein. Our studies of mice homozygous for the ic(J) mutation revealed a complete loss of LBR protein as shown by immunofluorescence microscopy and immunoblotting. The findings provide the molecular basis for the heterochromatin clumping and other distinct phenotypes caused by ic mutations. These spontaneous Lbr mutations confirm the molecular basis of human PHA and provide a small animal model for determination of the precise function of LBR in normal and pathological states.  (+info)

The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils. (3/18)

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Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly. (4/18)

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Pseudo-Pelger-Huet anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huet anomaly. (5/18)

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The danger of "multi-tasking": LBR out of control. (6/18)

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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. (7/18)

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An in vitro model for Pelger-Huet anomaly: stable knockdown of lamin B receptor in HL-60 cells. (8/18)

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Pelger-Huet Anomaly is a genetic disorder characterized by abnormalities in the shape and segmentation of granulocytes (a type of white blood cell involved in the immune response). In this condition, the granulocytes, specifically neutrophils, have a characteristic "double-nucleated" or "bilobed" appearance instead of the typical multi-lobed or segmented shape.

This anomaly can be classified into two types: complete and partial. In the complete form, all granulocytes are affected, while in the partial form, only a percentage of them show abnormalities. It's important to note that people with Pelger-Huet Anomaly usually have no symptoms and a normal life expectancy. However, in some cases, it can be associated with other genetic disorders or conditions, such as Kabuki syndrome or congenital heart defects.

It is essential to differentiate this benign condition from other disorders that may present similar abnormalities in granulocytes, like myelodysplastic syndromes or leukemia. A thorough clinical evaluation and laboratory tests are necessary for an accurate diagnosis and appropriate management.

Ebstein anomaly is a congenital heart defect that affects the tricuspid valve, which is the valve between the right atrium and right ventricle of the heart. In Ebstein anomaly, the tricuspid valve is abnormally formed and positioned, causing it to leak blood back into the right atrium. This can lead to various symptoms such as shortness of breath, fatigue, and cyanosis (bluish discoloration of the skin). Treatment for Ebstein anomaly may include medication, surgery, or a combination of both. It is important to note that the severity of the condition can vary widely among individuals, and some people with Ebstein anomaly may require more intensive treatment than others.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Congenital abnormalities, also known as birth defects, are structural or functional anomalies that are present at birth. These abnormalities can develop at any point during fetal development, and they can affect any part of the body. They can be caused by genetic factors, environmental influences, or a combination of both.

Congenital abnormalities can range from mild to severe and may include structural defects such as heart defects, neural tube defects, and cleft lip and palate, as well as functional defects such as intellectual disabilities and sensory impairments. Some congenital abnormalities may be visible at birth, while others may not become apparent until later in life.

In some cases, congenital abnormalities may be detected through prenatal testing, such as ultrasound or amniocentesis. In other cases, they may not be diagnosed until after the baby is born. Treatment for congenital abnormalities varies depending on the type and severity of the defect, and may include surgery, therapy, medication, or a combination of these approaches.

Coronary vessel anomalies refer to abnormalities in the structure, origin, or course of the coronary arteries or veins. These vessels are responsible for delivering oxygenated blood to the heart muscle. Some common types of coronary vessel anomalies include:

1. Anomalous Origin of the Coronary Artery (AOCA): This occurs when one or both of the coronary arteries originate from an abnormal location in the aorta. The left coronary artery may arise from the right sinus of Valsalva, while the right coronary artery may arise from the left sinus of Valsalva. This can lead to ischemia (reduced blood flow) and potentially life-threatening complications such as sudden cardiac death.
2. Coronary Artery Fistula: A fistula is an abnormal connection between a coronary artery and another chamber or vessel in the heart. Blood flows directly from the high-pressure coronary artery into a low-pressure chamber, bypassing the capillaries and leading to a steal phenomenon where oxygenated blood is diverted away from the heart muscle.
3. Coronary Artery Aneurysm: An aneurysm is a localized dilation or bulging of the coronary artery wall. This can lead to complications such as thrombosis (blood clot formation), embolism (blockage caused by a clot that travels to another location), or rupture, which can be life-threatening.
4. Myocardial Bridge: In this condition, a segment of the coronary artery passes between the muscle fibers of the heart, instead of running along its surface. This can cause compression of the artery during systole (contraction) and lead to ischemia.
5. Kawasaki Disease: Although not strictly an anomaly, Kawasaki disease is a pediatric illness that can result in coronary artery aneurysms and other complications if left untreated.

Coronary vessel anomalies may be asymptomatic or present with symptoms such as chest pain, shortness of breath, palpitations, or syncope (fainting). Diagnosis typically involves imaging techniques such as coronary angiography, computed tomography (CT) angiography, or magnetic resonance angiography. Treatment depends on the specific anomaly and may involve medications, percutaneous interventions, or surgical correction.

Urogenital abnormalities refer to structural or functional anomalies that affect the urinary and genital systems. These two systems are closely linked during embryonic development, and sometimes they may not develop properly, leading to various types of congenital defects. Urogenital abnormalities can range from minor issues like a bifid scrotum (a condition where the scrotum is split into two parts) to more severe problems such as bladder exstrophy (where the bladder develops outside the body).

These conditions may affect urination, reproduction, and sexual function. They can also increase the risk of infections and other complications. Urogenital abnormalities can be diagnosed through physical examination, imaging tests, or genetic testing. Treatment options depend on the specific condition but may include surgery, medication, or lifestyle changes.

Tooth abnormalities refer to any variations or irregularities in the size, shape, number, structure, or development of teeth that deviate from the typical or normal anatomy. These abnormalities can occur in primary (deciduous) or permanent teeth and can be caused by genetic factors, environmental influences, systemic diseases, or localized dental conditions during tooth formation.

Some examples of tooth abnormalities include:

1. Microdontia - teeth that are smaller than normal in size.
2. Macrodontia - teeth that are larger than normal in size.
3. Peg-shaped teeth - teeth with a narrow, conical shape.
4. Talon cusps - additional cusps or points on the biting surface of a tooth.
5. Dens invaginatus - an abnormal development where the tooth crown has an extra fold or pouch that can trap bacteria and cause dental problems.
6. Taurodontism - teeth with large pulp chambers and short roots.
7. Supernumerary teeth - having more teeth than the typical number (20 primary and 32 permanent teeth).
8. Hypodontia - missing one or more teeth due to a failure of development.
9. Germination - two adjacent teeth fused together, usually occurring in the front teeth.
10. Fusion - two separate teeth that have grown together during development.

Tooth abnormalities may not always require treatment unless they cause functional, aesthetic, or dental health issues. A dentist can diagnose and manage tooth abnormalities through various treatments, such as fillings, extractions, orthodontic care, or restorative procedures.

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