Ml. Guionalmeida et al., FRONTONASAL DYSPLASIA - ANALYSIS OF 21 CASES AND LITERATURE-REVIEW, International journal of oral and maxillofacial surgery, 25(2), 1996, pp. 91-97
Twenty-one patients with frontonasal dysplasia were studied. A 2:1 mal
e-to-female sex ratio and increased paternal and maternal ages at the
time of conception were found. The significance is uncertain because o
f small sample size and lack of normal mean values for parental age in
Brazil. Apparently, our series is the first to report macrocephaly (s
ix cases). Our series also had a high frequency of patients with agene
sis of the corpus callosum (12 cases), basal encephalocele (10 cases),
lipoma of the corpus callosum (four cases), and mental deficiency (11
cases). Three patients had the combination of agenesis of the corpus
callosum, mental deficiency, and micropenis. It is concluded that fron
tonasal dysplasia is pathogenetically heterogeneous, representing a re
gional defect which may not be a single developmental field or sequenc
e. Causal genesis includes a dominantly inherited form, dup(2q), and a
utosomal recessive Shanske syndrome, Of unknown genesis are two subset
s of frontonasal dysplasia patients: 1) the combination of agenesis of
the corpus callosum, tibial hypoplasia, and hallucal duplication and
2) ophthalmofrontonasal dysplasia or oculoauriculofrontonasal dysplasi
a with associated ear tags and epibulbar dermoids.