Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. 2010

Erin R Rudzinski, and Raj P Kapur, and Robert F Hevner
Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA. erin.rudzinski@seattlechildrens.org

Multiple congenital contractures, also known as fetal akinesia deformation sequence (FADS) and related terms, result from decreased fetal movement. The underlying etiologies are diverse and include central nervous system (CNS) dysgeneses and primary myopathies. Persistent central nuclei or the presence of myotubes is often regarded as evidence of a primary myopathic etiology; however, these findings are also associated with impaired fetal innervation. We report 7 fetuses, estimated gestational age 20 to 23 weeks, with persistent myotubular morphology, a change that could be (mis)interpreted as a primary myopathy. In 4 of the patients, CNS histology showed hypoxic/ischemic injury, polymicrogyria, mineralized neurons, and microinfarcts with or without loss of anterior horn neurons. FADS cases with polymicrogyria have frequently been interpreted as a consequence of a primary brain malformation. Only a few descriptions of FADS associate polymicrogyria with CNS hypoxic/ischemic injury, however, and do not describe skeletal muscle maturation delay. We hypothesize that this combination of neural and muscular pathology is an under-recognized pattern in FADS, which results from diffuse hypoxic/ischemic injury involving the brain and spinal cord during early to middle gestation.

UI MeSH Term Description Entries
D008297 Male Males
D001921 Brain 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. Encephalon
D003286 Contracture Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. Contractures
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D005311 Fetal Hypoxia Deficient oxygenation of FETAL BLOOD. Anoxia, Fetal,Fetal Anoxia,Hypoxia, Fetal
D005865 Gestational Age The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated from the onset of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. It is also estimated to begin from fertilization, estrus, coitus, or artificial insemination. Embryologic Age,Fetal Maturity, Chronologic,Chronologic Fetal Maturity,Fetal Age,Maturity, Chronologic Fetal,Age, Embryologic,Age, Fetal,Age, Gestational,Ages, Embryologic,Ages, Fetal,Ages, Gestational,Embryologic Ages,Fetal Ages,Gestational Ages
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013116 Spinal Cord A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER. Coccygeal Cord,Conus Medullaris,Conus Terminalis,Lumbar Cord,Medulla Spinalis,Myelon,Sacral Cord,Thoracic Cord,Coccygeal Cords,Conus Medullari,Conus Terminali,Cord, Coccygeal,Cord, Lumbar,Cord, Sacral,Cord, Spinal,Cord, Thoracic,Cords, Coccygeal,Cords, Lumbar,Cords, Sacral,Cords, Spinal,Cords, Thoracic,Lumbar Cords,Medulla Spinali,Medullari, Conus,Medullaris, Conus,Myelons,Sacral Cords,Spinal Cords,Spinali, Medulla,Spinalis, Medulla,Terminali, Conus,Terminalis, Conus,Thoracic Cords
D054220 Malformations of Cortical Development Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay. Generalized Cortical Dysplasia,Cerebral Cortical Dysplasia,Cortical Dysplasia,Cortical Dysplasia, Cerebral,Malformations of Cerebral Cortex Development,Cerebral Cortical Dysplasias,Cortical Development Malformation,Cortical Development Malformations,Cortical Dysplasia, Generalized,Cortical Dysplasias,Development Malformation, Cortical,Dysplasia, Cerebral Cortical,Dysplasia, Cortical,Dysplasia, Generalized Cortical,Generalized Cortical Dysplasias

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