Biomaterial Database

Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. 1996

L De Catte, and M Laubach, and J Legein, and A Goossens

Department of Obstetrics and Prenatal Diagnosis, University Hospital, Free University Brussels, Belgium.

We report a case of the sonographic detection of oculoauriculovertebral dysplasia in a fetus at 15 weeks' gestation. An early diagnosis was suggested by observation of a maxillar cleft in association with unilateral microphthalmia. In the presence of microphthalmia the syndrome is likely to include mental retardation. When the diagnosis is made in the perinatal period, management generally involves cosmetic surgery. If, however, the condition is recognized in the early stages of gestation, termination of pregnancy may be an option.

UI	MeSH Term	Description	Entries
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
D011256	Pregnancy Outcome	Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS 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.	Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
D011262	Pregnancy Trimester, Second	The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.	Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D005260	Female		Females
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
D006053	Goldenhar Syndrome	Mandibulofacial dysostosis with congenital eyelid dermoids.	Hemifacial Microsomia,Oculoauriculovertebral Syndrome,Craniofacial Microsomia,Facioauriculovertebral Dysplasia,Facioauriculovertebral Sequence,First and Second Branchial Arch Syndrome,First and Second Pharyngeal Arch Syndromes,Goldenhar Disease,Goldenhar Syndrome with Ipsilateral Radial Defect,Goldenhar-Gorlin Syndrome,Hemifacial Microsomia with Radial Defects,Lateral Facial Dysplasia,Microsomia Hemifacial Radial Defects,Moeschler Clarren Syndrome,OAVS with Radial Defect,Oculoauriculovertebral Dysplasia,Oculoauriculovertebral Spectrum,Oculoauriculovertebral Spectrum with Radial Defect,Oral-Mandibular-Auricular Syndrome,Otomandibular Dysostosis,Craniofacial Microsomias,Dysostosis, Otomandibular,Dysplasia, Facioauriculovertebral,Dysplasia, Lateral Facial,Dysplasia, Oculoauriculovertebral,Dysplasias, Facioauriculovertebral,Dysplasias, Lateral Facial,Dysplasias, Oculoauriculovertebral,Facial Dysplasia, Lateral,Facial Dysplasias, Lateral,Facioauriculovertebral Dysplasias,Facioauriculovertebral Sequences,Goldenhar Gorlin Syndrome,Goldenhar-Gorlin Syndromes,Lateral Facial Dysplasias,Microsomia, Craniofacial,Microsomias, Craniofacial,Oculoauriculovertebral Dysplasias,Oculoauriculovertebral Spectrums,Oral Mandibular Auricular Syndrome,Oral-Mandibular-Auricular Syndromes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D016216	Ultrasonography, Prenatal	The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.	Fetal Ultrasonography,Prenatal Diagnosis, Ultrasonic,Ultrasonography, Fetal,Diagnosis, Prenatal Ultrasonic,Diagnosis, Ultrasonic Prenatal,Prenatal Ultrasonic Diagnosis,Prenatal Ultrasonography,Ultrasonic Diagnosis, Prenatal,Ultrasonic Prenatal Diagnosis,Diagnoses, Prenatal Ultrasonic,Diagnoses, Ultrasonic Prenatal,Prenatal Diagnoses, Ultrasonic,Prenatal Ultrasonic Diagnoses,Ultrasonic Diagnoses, Prenatal,Ultrasonic Prenatal Diagnoses