CONGENITAL
ANOMALIES
CLEFT LIP
&
CLEFT
PALATE
Anatomy
-----------
Boundaries of upper lip are nose,
Nasolabial folds &Vermillion borders.
Vermillion is the red color dry mucosa.
White role is the line between skin &
Vermillion.
Cupid’s bow is part of vermilion.
Columella is the bridge between nasal tip
& the upper lip.
Alae is the fold of skin(part of nose)
joining the nasal tip & upper lip.
Nasal sill(nasal still, Simonard’s band) is
joining the alar base &columellar base.
Philitral column is the line joining the
alar base & peak of cupid’s bow.
Philitrum is the part of the upper lip
between the Philitral colums.
Palate
is the roof the
mouth& flour of the nose,
composed of hard palate,
bony part (anterior 2/3) &
soft palate, muscular part
(posterior 1/3). The
function of the palate is by
the soft palate upward &
backward toward the
pharyngeal walls result in
complete separation of the
nasal cavity &
nasopharynx from the oral
cavity & oropharynx. This
function is important for
sucking of milk which is
essential for feeding in
infants &during speech as
it aids in building the
necessary air pressure for
letters formation.
Cleft is a term used to describe failure
of fusion or formation of parts during
embryonic development e.g. cleft face,
cleft lip, cleft palate, cleft hand, cleft
foot.
Cleft lip is usually occur at the line of
Philitral column. It may be central,
unilateral(left or right sided) or
bilateral. Complete cleft lip is the cleft
that extend beyond the nasal sill
involving the nasal flour. Incomplete
cleft is the cleft that not extend beyond
the nasal sill.
Classification:
-
Cleft lip.
-
Cleft palate.
-
Cleft &cleft palate.
Incidence:
-The second common congenital anomaly after club foot.
-If one of the parents is affected the possibility is 2%.
-One parent & one sibling the possibility is 14%.
-Normal parents &one affected sibling the possibility is 4.5%.
-Cleft sided cleft lip > right sided cleft lip.
- Cleft palate is more common in female while cleft lip & palate is
more common in male.
Etiology:
1.Hereditary factors.
2.Environmental factors.
Drugs like steroids, anticonvulsants, alcohol.
Vitamins deficiencies or excess like vitamin A &
riboflavin.
Radiation.
Problems:
1.Cosmetic----appearance.
2.Feeding----defect in sucking
mechanism.
3.Failure to thrive--- needs follow up
of growth as periodic checking of
weight.
4.Speech problem-----nasal speech.
5.Otitis media(secretary type).
6.Respiratory problem.
Treatment:
-Management of problems.
-Surgery as repair of cleft.
-cleft lip -------at age of 2.5- months.
-cleft palate------at age of 1year.
-nose -------------at age of 5year.
-alveolar cleft---at age of 7-8years.
-Rhinoplasty----at age of 18years
Congenital anomalies of the hand
----------------------------------------
1.Sydactyly:is fusion of two fingers or more.
-complete syndactyly:when fusion extend
beyond the distal interphalangeal joint.
-incomplete syndactyly:when not reach the
distal interphalangeal joint.
-simple syndactyly:is fusion of soft tissue only.
-complex syndactyly:is fusion of bone &soft
tissue.
Treatment: is by surgery as separation and
skin grafting at age of 3-4years.
2.Polydactyly: as presence of excess finger
either on ulnar or radial side of the hand.
3.Macrodactyly:is big finger either
primary involving all tissues or
secondary involving single type of tissue
as Neurofibroma or hemangioma.
Congenital anomalies of male external genitalia
----------------------------------------------------------
Hypospadias
-----------------
1.ventrally &proximally located
meatus.
2.presence of chordee(fibrous
cord) which the rudimentary part of corpus
spongiosum.
3.meatal stenosis.
Types: according to the site meatus as
proximal or distal OR ganular, coronal, penile,
penoscrotal, scrotal perineal.
-Treatment is surgical repair in two stages:
1.release of chordee.
2.reconstruction of urethra.
The preferable age is the preschool age & the
period between the 2 stages is at least 6 months.
Epispadias:
is presence of meatus on the
dorsal surface of the penis, it may be
associated with ectopic vesicae.
Cutaneous vascular malformation
-----------------------------------------
Straw-berry Hemangioma
: is
capillary hemangioma, composed of
immature endothelium. It has 3
phases of growth; Growth phase as
it appears in the few days of life as
white or red color patch then changes
to more red & purple color &elevates
&increases in size gradually. It
reaches its maximum size at age of
one year. Platue phase as no change
in color or size. Regression phase as it
it decreases in size & change to white
or skin color. This takes longer time
up to age of 5-7 years more.
Port-Wine stain:
is capillary
hemangioma, composed of mature
endothelium. It is not liable for
regression. It appears as red-purple color
patch, flat surface which may get
granular appearance during puberty.
The common site is the face on the
distribution of the trigeminal (CN5)
nerve, on part or whole of nerve
distribution.
Salmon patch:
is similar to port-wine
stain but it regresses completely and the
common site is the back of neck.
Pyogenic granuloma:
is capillary
hemangioma, may appears with port-
wine stain or formed accidentally in
incompletely healed wounds.
Cavernous hemangioma:
is a venous
type, less or not liable for regression.
On examination it is compressible,
deeply located, purple color masses.
A-V fistula:
is an arterial type,
associated with swelling or
enlargement of the affected part &
there are palpable thrill and brie.
Lymphatic malformation:
like
Cystic hygroma
which is soft,
transilluminable, poly cystic masses
appear in the neck & face(or in the
groin) after birth &increase in size
gradually with age. It also increases in
size when there is upper respiratory
tract infections.
Complications of vascular
malformations:
1.bleeding.
2.ulceration.
3.infections.
4.obstruction e.g. of airways,
intestine, eyes.
5.disfiguring as enlargement
(macrodactyly) or gigantism.
6.bleeding tendency as in
casabach-merit syndrome in
which there consumption
coagulopathy & decrease in
platelet count.
7. heart failure.
Treatment:
1. conservative as
reassurance & wait
for regression.
2. surgery as excision
& reconstruction.
3. steroids.
4. Laser.
5. radiotherapy.
6. cryosurgery.
7.sclerosing agents.
8.embolization.