Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome

The diagnosis Brachmann-de Lange or Cornelia-de Lange syndrome is based on the characteristic facial appearance and other malformations. Prenatal. ult rasonographic diagnosis has been made occasionally usually confirmed by cli nical photographs of third trimester fetuses with distinctly recognizable h air anomalies (synophrys, low anterior and posterior hairlines, and hypertr ichosis). However, at 22 weeks of gestation, these highly characteristic si gns fail to support the clinical diagnosis. We report on pre- and post-nata l 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 dia gnosis. The prenatal ultrasound images demonstrated a grossly abnormal faci al profile (a protruding and overhanging upper lip and severe retrognathia) highly suggestive of Brachmann-de Lange syndrome. The recurrence risk is e stimated 1%. The recognition of Brachmann-de Lange syndrome in second trime ster fetuses is essential for genetic counselling and reassurance of parent s contemplating future reproduction. (C) 2001 Wiley-Liss, Inc.