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Prenatal Diagnosis of Otocephaly: A Rare Facial Anomaly.
J Obstet Gynaecol India
August 2022
Resolution Fetal Medicine Centre and Research Institute, Hyderabad, Telangana India.
Introduction: Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful.
View Article and Find Full Text PDFSay-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.
Childs Nerv Syst
July 2015
Departamento de Genética Médica, Hospital General de Tijuana ISESALUD, Tijuana, Baja California, Mexico,
Introduction: In 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences.
Case Report: A Mexican 10-year-old boy with Say-Meyer syndrome is described.
Hypotelorism: an extracranial correction technique.
Plast Reconstr Surg
November 1999
Division of Plastic Surgery, St. Orsola General Hospital, Bologna, Italy.
Significance of orbital measurements in the fetus.
J Ultrasound Med
December 1994
Department of Radiology, University of California, San Diego.
Orbital imaging is not performed routinely during obstetrical sonography, but the discovery of abnormal orbital diameters provides evidence of fetal dysgenesis. This study was designed to establish the validity of a previously developed orbital nomogram for a high-risk population and to determine whether proved cases of hypotelorism and hypertelorism fell outside the normal ranges. Inner and outer orbital measurements of 422 fetuses were obtained prospectively during routine obstetrical sonography in a high-risk patient population.
View Article and Find Full Text PDF[Holoprosencephaly: criteria and consequences for prenatal diagnosis].
Ultraschall Med
February 1991
Abteilung für Gynäkologie und Geburtshilfe, LKH-Klagenfurt.
Two cases of prenatal diagnosis of holoprosencephaly are described. The characteristic sonographic findings in the second trimester were: microcephaly, absence of the midline echo, hypotelorism and typically flattened profile without sufficient configuration of the nose. Both foetuses had midline facial clefts, one of which was diagnosed prenatally.
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