A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
A developmental malformation of the heart characterized by a twisted but not defective atrioventicular connection. The abnormal rotation of the ventricular mass around its long axis results in the crossing of the inflow streams of the two ventricles. Other features include hypoplasia of the TRICUSPID VALVE and RIGHT VENTRICLE.
Limb Deformities, Congenital
Fanconi Anemia Complementation Group Proteins
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.
Heart Defects, Congenital
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; SPONTANEOUS ABORTION; INDUCED ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO.
The event that a FETUS is born dead or stillborn.
Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
The care of women and a fetus or newborn given before, during, and after delivery from the 28th week of gestation through the 7th day after delivery.
The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.
Chromosomes, Human, 6-12 and X
An organized and comprehensive program of health care that identifies and reduces a woman's reproductive risks before conception through risk assessment, health promotion, and interventions. Preconception care programs may be designed to include the male partner in providing counseling and educational information in preparation for fatherhood, such as genetic counseling and testing, financial and family planning, etc. This concept is different from PRENATAL CARE, which occurs during pregnancy.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Pregnancy Trimester, First
The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.
The age of the mother in PREGNANCY.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Tomography, X-Ray Computed
Magnetic Resonance Imaging
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.