Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy. 1984

T H Bui, and L Marsk, and O Eklöf, and K Theorell

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis-van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
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
D004613 Ellis-Van Creveld Syndrome Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed) Chondroectodermal Dysplasia,Ellis-Van Creveld Dysplasia,Mesoectodermal Dysplasia,Chondroectodermal Dysplasias,Dysplasia, Chondroectodermal,Dysplasia, Ellis-Van Creveld,Dysplasia, Mesoectodermal,Ellis Van Creveld Dysplasia,Ellis Van Creveld Syndrome,Mesoectodermal Dysplasias,Syndrome, Ellis-Van Creveld
D005260 Female Females
D005332 Fetoscopy Endoscopic examination, therapy or surgery of the fetus and amniotic cavity through abdominal or uterine entry. Amnioscopic Surgical Procedures,Amnioscopy,Embryoscopic Surgical Procedures,Embryoscopy,Fetoscopic Surgical Procedures,Surgical Procedures, Amnioscopic,Surgical Procedures, Embryoscopic,Surgical Procedures, Fetoscopic,Amnioscopic Surgery,Embryoscopic Surgery,Fetoscopic Surgery,Surgery, Amnioscopic,Surgery, Embryoscopic,Surgery, Fetoscopic,Amnioscopic Surgeries,Amnioscopic Surgical Procedure,Amnioscopies,Embryoscopic Surgeries,Embryoscopic Surgical Procedure,Embryoscopies,Fetoscopic Surgeries,Fetoscopic Surgical Procedure,Fetoscopies,Procedure, Amnioscopic Surgical,Procedure, Embryoscopic Surgical,Procedure, Fetoscopic Surgical,Procedures, Amnioscopic Surgical,Procedures, Embryoscopic Surgical,Procedures, Fetoscopic Surgical,Surgeries, Amnioscopic,Surgeries, Embryoscopic,Surgeries, Fetoscopic,Surgical Procedure, Amnioscopic,Surgical Procedure, Embryoscopic,Surgical Procedure, Fetoscopic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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