1
52
Investigati9ons done reveals: FBC – PCV = 50%, WBC =
.8 x 10 /L, N=58%, L=34%, E=4%, M=4%, Blood
quently extended these observations and recommended
frontonasal dy1splasia as a more appropriate designation
for this defect.
7
Culture – No growth. CT-Scan: The 3D reformation
shows absent nasal bones with hypoplasia and lack of
midline fusion of the frontal bones which were deficient
bilaterally. Corpus callosum agenesis is noted. The cere-
bral and cerebellar cortices are normal. The right ante-
rior horn of the lateral ventricle appears slightly nar-
rowed? Positional, the brain stem is normal; features are
in keeping with medium cleft face syndrome (Fig. 3)
Frontonasal dysplasia (FND) is a rare developmental
defect of craniofac1i, a2,l4region where the midface does not
develop normally
. The exact cause of FND is un-
known. Anomalies can be explained by single malfor-
mation, though most cases are sporadic. It has also been
suggested that a defect involving chromosomes 3q23,
2 3
q27, 7q21 and 11q21 might play a role , . In our case,
3
Fig 3: CT Brain – 3 D
Reformated image
showing sutural diastesis
and defect in frontal
bone
chromosomal studies were not done due to absence of
facilities. The parents of an affec5t,e6d child can expect the
risk to be 25% for the next child.
The embryogenic origin of FND is in the period prior trod
the 28 – mm crown – rump length stages. During the 3
week of gestation, two areas of thickened ectoderm, the
olfactory areas appear immediately under the forebrain
in the anterior wall of the stomodeum. By the up –
growth of the surrounding parts, these areas are con-
verted into pits, the olfactory pits, which indent the fron-
tonasal prominence and divide into a medial and two
lateral nasal processes. Frontonasal dysplasia is due to
deficient remodeling of the nasal capsule, which causes
the future fronto-naso-ethmoidal complex to freeze in
Fig 4: CT Brain –
sagittal image show-
ing agenesis of corpus
callosum
3
the fetal form .
There may be few defects in the milder form of FND
where as the severe defects affects the eyes
Fig 5: CT Brain – Axial
Image – showing absence of
frontal horn of lateral ven-
tricles
(
hypertelorism, lateral displacement), forehead (widow’s
peak, deficit in midline frontal bone – cranium bifidum
occultum), and the nose – (variably affected from
notched broad nasal tip to completely divided nostrils
with hypoplasia to absence of t7h,e8 prolabium and pre-
maxilla with a median cleft lip) - as was the case in
our patient. Our patient did not however have some fea-
tures such as absence of prolabium and pre-maxilla and
median cleft.
As neonates are nasal breathers, simultaneous sucking
9
and breathing leads to respiratory distress . This was the
case in our patient at the time they presented to us. Oral
airway and orogastric feeding was instituted temporar-
ily, canalization of the nasal passage was planned for to
allow breastfeeding and breathing with cosmetic surgery
planned for a later time but parents refused and took
baby home against medical advice as reported in other
Baby had an oropharyngeal airway was put in place and
nasogastric tube size 6 FR passed for feeding with ex-
pressed breastmilk. Problems encountered were: nasal
cavity not patent posteriorly and respiratory difficulty on
removal of oropharyngeal airway. Baby was planned for
an initial posterior choanoraphy so as to enable nasal
breathing without interfering with feeding and later cos-
metic surgery, but baby’s parents refused medical advice
and took baby home against medical advice at the age of
9
series . Despite efforts at getting the hospital to waive
charges off for admission and surgery, the parents de-
cline staying in hospital for further medical management
on grounds of father going on posting outside the coun-
try. Further follow-up was also not possible in this in-
stance as both mother and baby travel out of Maiduguri
to their home town immediately after discharge.
1
8 days.
Individuals with FND tend to have normal lifespan with
average intelligence. Affected individuals with severe
form of the disorder may die shortly after birth if correc-
tive surgery to establish normal feeding and breathing is
not performed as soon as possible.
Discussion
DeMeyer first described the transitional gradations in
severity of this presumed single primary localized defect
in 33 cases and called this pattern of anomaly the me-
1
dian cleft face syndrome . Sedano and colleaques subse-