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.