title: Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome.
abstract: The diagnosis Brachmann-de Lange or Cornelia-de Lange syndrome is based on the characteristic facial appearance and other malformations. Prenatal ultrasonographic diagnosis has been made occasionally usually confirmed by clinical photographs of third trimester fetuses with distinctly recognizable hair anomalies (synophrys, low anterior and posterior hairlines, and hypertrichosis). However, at 22 weeks of gestation, these highly characteristic signs fail to support the clinical diagnosis. We report on pre- and post-natal findings in a 22-week-old female fetus with Brachmann-de Lange syndrome. The facial Gestalt was already characteristic and the associated upper limb malformations (bilateral monodactyly and ulnar agenesis) supported the diagnosis. The prenatal ultrasound images demonstrated a grossly abnormal facial profile (a protruding and overhanging upper lip and severe retrognathia) highly suggestive of Brachmann-de Lange syndrome. The recurrence risk is estimated &#1%. The recognition of Brachmann-de Lange syndrome in second trimester fetuses is essential for genetic counselling and reassurance of parents contemplating future reproduction.
authors.affiliation: Institut für Medizinische Genetik, Humboldt-Universität zu Berlin, Berlin, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Urban
authors.forename: J
authors.initials: J
authors.lastname: Hartung
mesh_terms: D000328:Adult; D003635:De Lange Syndrome / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000473:pathology*; D005333:Fetus; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal