Finding a diagnosis for rare syndromes usually
carry a high risk of mal diagnosis, but the
availability of genetic tests enables us even in
the under developed countries (medically) to
reach a definite diagnosis. Bohring-Opitz
syndrome is a malformation syndrome
characterized by severe intrauterine growth
retardation, poor feeding, profound mental
retardation, trigonocephaly, prominent
metopic suture, exophthalmoses, nevus
flammeus of the face, up slanting palpebral
fissures, hirsutism, and flexion of the elbows
and wrists with deviation of the wrists and
metacarpophalangeal joints. Bohring and
others (1) presented four unrelated cases of a
syndrome resembling Opitz trigonocephaly
(C) syndrome, also the authors identified two
cases in the literature, formerly reported as
having C syndrome (2, 3), Addor et al. (2)
reported a 6-year old girl with Ctrigonocephaly syndrome and diaphragmatic
hernia. Also, Bohring and co-workers (4)
reported four additional unrelated cases of
Bohring-Opitz syndrome, Pierron and others
(5) reported a patient with Bohring-Opitz
syndrome. Hoischen and co-workers (6)
reported seven unrelated patients with
Bohring-Opitz syndrome due to de novo
heterozygous mutations in the ASXL1 gene.
Magini and colleagues (7) reported two
unrelated patients with Bohring-Opitz
syndrome confirmed by molecular analysis.