ABSTRACT
In the mirror syndrome, maternal edema mirrors fetal edema. The pathogenesis is unknown. The most common etiologic associations are rhesus isoimmunization, twin-twin transfusion syndrome, and viral infections. Less than 10% of reported cases are associated with congenital anomalies. We report a case due to congenital laryngeal stenosis, which also caused congenital high airway obstruction syndrome (CHAOS), characterized by pulmonary hyperplasia and edema or anasarca, related to airway abnormality. The fetal manifestations of the mirror syndrome and CHAOS overlap, but occurrence of the two in the same patient does not seem to have been reported.
Subject(s)
Airway Obstruction/congenital , Fetal Diseases/diagnostic imaging , Hydrops Fetalis/etiology , Laryngostenosis/congenital , Abnormalities, Multiple , Adult , Airway Obstruction/diagnostic imaging , Airway Obstruction/embryology , Fatal Outcome , Female , Fetofetal Transfusion/pathology , Humans , Hydrops Fetalis/pathology , Infant, Newborn , Laryngostenosis/diagnostic imaging , Laryngostenosis/embryology , Lung/diagnostic imaging , Lung/embryology , Male , Pregnancy , Rh Isoimmunization/pathology , Ultrasonography, Prenatal , Virus Diseases/pathologyABSTRACT
We reviewed the sonographic and MRI findings of tracheolaryngeal obstruction in the fetus. Conditions that can cause tracheolaryngeal obstruction include extrinsic causes such as lymphatic malformation, cervical teratoma and vascular rings and intrinsic causes such as congenital high airway obstruction syndrome (CHAOS). Accurate distinction of these conditions by sonography or MRI can help facilitate parental counseling and management, including the decision to utilize the ex utero intrapartum treatment (EXIT) procedure.
Subject(s)
Airway Obstruction/diagnosis , Laryngostenosis/diagnosis , Magnetic Resonance Imaging/methods , Tracheal Stenosis/diagnosis , Ultrasonography, Prenatal/methods , Airway Obstruction/embryology , Female , Humans , Laryngostenosis/embryology , Male , Tracheal Stenosis/embryologyABSTRACT
Congenital high airway obstructive syndrome (CHAOS) is a rare but fatal disease with predictably characteristic features including stenotic or atretic upper airway, hyperplastic lungs, elevated diaphragm, massive fetal ascites and fetal hydrops. Diagnosis of CHAOS by ultrasound scan is possible and clinically important since advanced intrauterine surgery to correct the defect is possible. We report a case of fetus of CHAOS with massive ascites, pulmonary hyperplasia and laryngeal stenosis/atresia. We feel that it is important to recognize the entity both by ultrasound scan and by the pathologist so that some cases can be corrected by intrauterine fetal surgery.
Subject(s)
Airway Obstruction/congenital , Laryngostenosis/congenital , Adolescent , Airway Obstruction/embryology , Female , Humans , Laryngostenosis/embryology , Pregnancy , SyndromeABSTRACT
Apoptosis is widely recognized as a major phenomenon in normal development. Deficiencies in this process may lead to developmental abnormalities such as congenital subglottic stenosis. We studied apoptosis using in situ end labeling of the 3'-OH ends of fragmented DNA in 5 progressively older, normal, human cricoid cartilage specimens. Results show that apoptosis is a very active process in fetal and neonatal tissue. The process gradually slows with advancing age. In the 4- and 13-year-old specimens, minimal to no apoptosis was seen. We conclude that apoptosis plays a critical role in the intraluminal and extraluminal expansion of the cricoid cartilage.
Subject(s)
Apoptosis/physiology , Cricoid Cartilage/embryology , Cricoid Cartilage/growth & development , Adolescent , Age Factors , Cell Count , Child, Preschool , Cricoid Cartilage/abnormalities , Cricoid Cartilage/ultrastructure , DNA Fragmentation/physiology , Fluorescent Antibody Technique , Gestational Age , Glottis/abnormalities , Humans , In Situ Nick-End Labeling , Infant , Laryngostenosis/congenital , Laryngostenosis/embryology , Microscopy, Confocal , Pilot ProjectsABSTRACT
We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.
Subject(s)
Abnormalities, Multiple , Kidney/abnormalities , Laryngostenosis/complications , Lung/pathology , Abnormalities, Multiple/diagnostic imaging , Adult , Anophthalmos , Family Health , Female , Humans , Hyperplasia/complications , Hyperplasia/embryology , Hyperplasia/etiology , Laryngostenosis/embryology , Pregnancy , UltrasonographyABSTRACT
Congenital supraglottic laryngeal obstruction still is being described as subglottic stenosis. There are three clearly defined types of congenital laryngeal atresia, which result from arrest at consecutive developmental stages. Type 1 consists of a supraglottic obstruction, absent vestibule, and stenotic infraglottis, and type 2 is a supraglottic obstruction that separates a shallow primitive vestibule above from a nonstenotic infraglottis. These two types usually are accompanied by other defects, many of them severe. In type 3, a perforated membrane partly obstructs the glottis. Arrest of the dorsal advance of the chondrifying cricoid before the ends meet to form the dorsal lamina results in a complete laryngeal cleft, and incomplete fusion of the ends may leave a notch and/or foramen within the lamina. Failure of the interarytenoid tissue to develop will produce a local cleft, and maldevelopment of the cricoid cartilage or infraglottic submucosa can result in true subglottic stenosis without supraglottic obstruction.
