Hypoplasia-Hyperplasia

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Hypoplasia / Hyperplasia
Syndromes
Post-Graduate Course
Plastic Surgery
Tel Aviv University
Presentation:
Noam Hai – Sha’are Zedek M.C, Jerusalem
Instruction:
Meir Cohen – Schneider’s Children Hospital, Petah Tiqwa
Alex Margulis – Hadassah Ein-Kerem M.C, Jerusalem
Craniofacial Subjects
Clefts
Synostosis
Hypoplasia/Atrophy
Hyperplasia
Combined hyperplasia/hypoplasia
Tumors
Trauma

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Hypoplasia/Dysgenesis
Atrophy
Congenital (Primary)
Craniofacial microsomia / Goldenhar syndrome
Treacher Collins syndrome
Nager, Miller syndromes
Binder syndrome
Pierre-Robin Sequence
Moebius syndrome
Acquired
Hemifacial atrophy (Romberg’s Disease)
Branchial Arches Syndromes
Craniofacial microsomia / Goldenhar
Treacher-Collins Syndrome
Nager
Miller
Moebius
Orofaciodigital Syndromes (I-VIII)
Wildervanck

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Age - 28 days

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Tensor tympani
Tensor veli palatini
Branchial Arches Derivatives
Stapedius

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Branchial arch
derivatives
Visceral arch Cranial Nerve Muscles Skeletal
structures
I
V (mandibular
branch)
Mastication, mylohyoid,
anterior belly of
digastric, tensor tympany
and t. of palatine curtain
II VII Muscles of facial
expression, stapedius,
stylohyoid, posterior
belly of digastric
III IX Stylopharyngeal and
upper pharyngeal
IV, V, VI
X (superior laryngeall
and recurrent
laryngeal branches)
Meckel’s cartilage,
malleus, incus, mandible,
sphenomandibular
ligament
Reichert’s cartilage,
stapes, styloid process,
lesser cornu of hyoid,
upper part of hyoid bone,
stylohyoid ligament
Greater cornu of hyoid,
lower part of body of
hyoid
Pharyngeal and laryngeal Thyroid, arytenoid,
corniculate and
cuneiform cartilages

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Congenital / Primary
Hypoplasia
Atrophy
Dysgenesis
Craniofacial
Microsomia

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Craniofacial Microsomia
Craniofacial Microsomia
Hemifacial Microsomia (HFM)
Dysostosis Otomandibularis
1 0 and 2 0 Branchial arch
syndrome

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Introduction
The most common major craniofacial
malformation of hypoplasia of the
skeleton and overlying soft tissue.
Second most common after CLP/CP
Not Genetic
Incidence = 1/ 4000-5500 L.B
15% are bilateral
Pathogenesis
Vascular theory - Stapedial artery:
Temporary embryonic collateral of the hyoid artery
Forms connections with the pharyngeal artery
Replaced by the external carotid artery
Hemorrhagic insult in the 1 0 & 2 0 branchial arches
Hematoma formation
Subsequent ischemia & maldevelopment.

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Mandible hypoplasia is the key to
diagnosis and management
Pruzansky’s Classification
(Pruzansky, 1969 and Mulliken and
Kaban, 1987). A: Type I: the condyle and
ramus are reduced in size but the overall
morphology is maintained. B: Type IIa:
the ramus and condyle demonstrate
abnormal morphology but the glenoid
fossa has maintained a position in the
temporal bone similar to that of the
contralateral side. C: Type IIb: The
ramus/condyle is hypoplastic and
malformed and displaced outside the
plane of that of the contralateral side. D:
Type III: The ramus is essentially absent
without any evidence of a
temporomandibular joint.

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Munro and Lauritzen
Classification (1985)
The circle in Figure 1A designates the usual site of
skeletal involvement. The midsagittal, midincisor,
occlusal and orbital planes are designated.
Type IA, The craniofacial skeleton is only mildly
hypoplastic and the occlusal plane is horizontal;
Type IB, the skeleton is as in IA, but the occlusal
plane is canted. Type II, the condyle and part of the
affected ramus are absent; Type III, in addition to
the findings in Type II, the zygomatic arch and
glenoid fossa are absent; Type IV, This is an
uncommon type with hypoplasia of the zygoma
and medial and posterior displacement of the
lateral orbital wall; Type V, the most extreme type
has inferior displacement of the orbit with a
decrease in orbital volume.
(from McCarthy, J. G., Grayson, B. H., Coccaro, P.
J., Wood-Smith, D. Craniofacial microsomia. In
McCarthy J. G., ed. Plastic Surgery. Philadelphia:
W. B. Saunders, 1990.)
Clinical Findings
Jaws - The most obvious deformity is the mandible,
esp. ascending ramus, can be absent or reduced in
the vertical dimension.
Other skeletal components - the maxilla,
zygoma, temporal, orbit and cervical vertebrae may
be deformed and hypoplastic.
Muscles of mastication - hypoplastic
Ears - hypoplasia
Nervous system - hypoplasia and facial palsy
Soft tissue - clefts, hypoplasia of the skin, skin tags

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Clinical Findings
OMENS
Orbital & Other skeletal
Mandible & muscles of mastication
Ear hypoplasia
Nerve (Facial N. palsey)
Soft tissue
Clinical Findings
Mandibular Hypoplasia – 89-100%
Muscle hypoplasia – 85-95%
Microtia – 66-99%
Ear tags – 40%
Macrostomia – 17-62%
Facial N. palsy – 10-45%
Palatal deviation - 39%
Orbital discrepancy – 15%
Frontal Plagiocephaly – 5%

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Clinical Findings
OMENS Plus
Cardiac
Skeletal
Pulmonary
Renal
Gastrointestinal
Limb
Goldenhar Syndrome
Goldenhar

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Goldenhar Syndrome
Spectrum: Hemifacial microsomia- Goldenhar
Also includes -
Epibulbar dermoids
Lipodermoids or lipomas of the orbital region
Vertebral anomalies
98% - Sporadic 2% - Familial (AD)
Incidence: 1:3500 – 1:25,000
AKA – Oculo-Auriculo-Vertebral (OAV) Dysplasia
Epibulbar Dermoid

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Facial:
Goldenhar Syndrome
Unilateral Hypoplasia Rt.:Lt. = 60:40 1/3 Bilat.
Mandible, Zygoma, Maxilla, Temporal
Muscles of mastication, Soft tissue
Parotid – Agenesis / Hypoplastic / Displaced
Cleft Lip/Palate – 10%
Cardiac: VSD, PDA, TOF, Ao. Coarctation
CNS: Retardation : 5-15% esp. Micro/Anophthalmia
Renal: Ectopy, Hydronephrosis
Skeletal: Club foot & other anomalies
Craniofacial Microsomia
Bilateral, Asymmetric

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Differential Diagnosis
Treacher Collins
Inheritance.
Symmetry
Other features: (absent in craniofacial microsomia)
Absence of the medial lower eyelashes
Antegonial notching of the mandible
Micrognathia (developmental or posttraumatic)
Underdevelopment restricted to the mandible
No evidence of facial paralysis, ear anomalies, or
soft tissue hypoplasia of the cheeks.

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Preoperative Assessment
Complete clinical evaluation is mandatory
Look for other organ systems: kidneys, heart.
Photographs: frontal, lateral, oblique, submental
vertex and occlusal views.
Cephalograms (posteroanterior, lateral, and basilar)
Panoramic (Panorex).
3-D CT - Optimal.
Dental models from the Orthodentist
Other: Renal US, Audiometry, Temporal bone CT.
Treatment

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Treatment
> 14 y :
(1) limited autogenous bone grafting of deficient
portions of the craniofacial skeleton
(2) combined Le Fort I osteotomy, bilateral
mandibular ramisection and genioplasty
(3) bilateral mandibular advancement in patients with
mild to moderate mandibular micrognathia
(4) microvascular free flap to augment the soft
tissues of the face on the affected side
Mandibular Distraction
An intraoral incision is made along
the oblique line of the mandibular
remnant.
Sites of the pinholes and proposed osteotomy
(interrupted line).

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The pins have been
inserted.
The osteotomy is
performed.
Commencement of distraction with the appliance in position. The arrows
designate the movement of the mandibular segments with formation of bony
regenerate in the resulting gap.

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Vertical Distraction
Costochondral rib grafts, Le Fort I Osteotomy
Sagittal split contralateral ramus & genioplasty
A: The skeletal deformity in unilateral
(left) craniofacial microsomia. Note the
absent ramus with deviation of the chin to
the affected side and an occlusal cant
upward toward the left side. The arrows
designate the proposed skeletal movements
of the mandible and maxilla. The dots
designate the midpoints of the upper face,
midface and chin. The dotted area
represents the area where bone is removed
from the maxilla and the interrupted lines
designate the proposed maxillary and chin
osteotomy sites. (Modified from Munro, I.
R., Lauritzen C. G. Classification and
treatment of hemifacial microsomia. In:
Caronni, E. P., (ed.). Craniofacial Surgery.
Boston: Little, Brown & Co., 391–400,
1985.)
B: At the completion of the
osteotomies with plate and screw
fixation applied. Note that the dots
have recreated the midsagittal
plane of the craniofacial skeleton.
The ramus has been reconstructed
with costochondral rib grafts. The
Le Fort I segment has been
impacted on the right side and a
bone graft has been inserted on the
left side. The sagittal split
osteotomy has been fixated with
screws and the genioplasty has
been secured with lag screws.

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C: Lateral view illustrating
the reconstruction of the
zygomatic arch with a rib
graft, the undersurface of
which serves as the
neoglenoid fossa for the
reconstructed ramus/condyle.
D: Close-up view of the
reconstruction of the zygomatic
arch and the glenoid fossa. A cap
of costal cartilage is sutured to the
undersurface of the rib graft to
serve as a glenoid fossa. A
resorbable suture temporarily
secures the condyle to the fossa.
The Le Fort I osteotomy cannot be
performed until the permanent
maxillary teeth have erupted.

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The combined Le Fort I osteotomy,
bilateral sagittal split of the mandible
and genioplasty in a patient with rightsided
hemifacial microsomia
A: left, Lines of osteotomy. The
ostectomy and site of vertical
impaction are illustrated on the left
maxilla. The solid circles designate
the midpoints of the chin, maxilla,
and orbital region. The arrow shows
the direction of the jaw movements.
B: right, Following movement of the
maxillary, mandibular, and chin
segments and the establishment of
rigid skeletal fixation. Note the
interposition bone graft in the right
maxilla. The solid circles line up
along the craniofacial midsagittal
plane.

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14 years old male with left
hemifacial microsomia.
An overgrowth of a rib
graft was found 4 years
folowing insertion.
Treacher-Collins
Syndrome (TCS)

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Introduction
Treacher Collins syndrome (TCS)
AKA Franceschetti-Zwahlen-Klein Syndrome
Mandibulofacial dysotosis
Bilateral 6,7,8 clefts
AD Chr #5
High Penetrance ; Variable expressivity.
Incidence: 1/25,000 - 1/50,000 L.B
Symmetric Bilateral anomalies
1 0 & 2 0 branchial arches derivatives
Nonprogressive - stable deformities with growth
Descriptive criteria
Convex facial profile
“Prominent” nasal dorsum
Depressed Malar bones
Antimongoloid slant
Inferolateral orbital dystopia.
Hypoplastic lower eyelids &
Colobomata
Absence of medial eyelashes
Microtia 60-77%
Long “tongue-shaped”
sideburns

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Descriptive criteria
Macrostomia (wide commissures)
Parotid hypoplasia
Retrusive lower jaw and chin
Small nasopharynx AW problems
Choanal atresia
Other temporal bone anomalies
Hearing loss (Deafness)
Cleft palate & VPI in 33%
Robin sequence
Teardrop Orbits
Hypoplastic Malar Bones
Hypoplastic\Absent Zygomata
Clefting in most severe cases
Bilateral 6,7,8 clefts
Flat coronoid process
Malformed condyles
X-Ray

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Description
The most characteristic skeletal
finding is hypoplasia of the
malar bones, often with clefting
through the zygomatic arches.
Description
Maxillary and mandibular bones:
Hypoplastic, antigonial notching of mandibular angle
Variable effects on the TMJs.
Occlusion: Angle class II Ant. open-bite
Steep (clockwise rotated) occlusal plane
Accentuated curve of Spee.
Cranium: Synostosis is not a feature of TCS
But often the neurocranium has abnormal shape
evident during childhood through adulthood:
Decreased A-P length
Diminished bitemporal width

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Treacher Collins syndrome is an AD condition with variable expressivity. This mother and daughter
demonstrate the extent of variation within a family. The mother (A) was not aware that she carried the
Treacher Collins syndrome gene until after the birth of her daughter (B).

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An infant with a severe form of Treacher Collins syndrome shown at 2 months of age
and 2 years of age without treatment interventions. There is no progression of the
deformity.
C, D: Three-dimensional CT lateral views at 2 months of age (C) and at 2 years of age (D).
Growth of the condyle, coronoid, and ascending ramus of the mandible is evident.

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Treatment
Infancy
At birth concerns center on:
AW, Swallowing & feeding, Hearing, Vision,
the presence of cleft palate, with or without
cleft lip and any associated malformations.
Begining in childhood (5-7 years)
3 stage repair
(1) zygomatic and orbital region
(2) maxillomandibular region
(3) nasal region, soft tissues, external ears
auditory canal & middle ear structures.
Soft tissue
Eyelids - Lateral canthopexy and upper eyelid
flaps, grafts (bad results)
Malar hypoplasia –
Pericranial, Temporoparietal flaps (hypoplastic)
Bad results
Auricle reconstruction

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Zygomatico-Orbital
reconstruction
A 7-year-old boy before and one year after zygomatico-orbital reconstruction.

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E, F: Contoured full-thickness autogenous cranial bone grafts before inset. Three-dimensional
craniofacial CT scan reviews before and one year after surgery. E: Oblique views. F: Frontal views.
Despite well-intended surgical attempts to
improve the soft tissue deficiencies of the
eyelid-adnexal regions in the patient with
Treacher Collins syndrome, few aesthetically
pleasing soft tissue eyelid reconstructions
have resulted. A: Frontal view of teenager
who underwent transposition of pedicled
upper eyelid skin/muscle flaps to the lower
eyelid deficient regions.
Soft Tissue Deficiency

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Despite well-intended surgical attempts to improve
the soft tissue deficiencies of the eyelid-adnexal
regions in the patient with Treacher Collins
syndrome, few aesthetically pleasing soft tissue
eyelid reconstructions have resulted. B: A 4-yearold
child with Treacher Collins syndrome after
placement of full-thickness skin grafts to the lower
eyelids. The grafts leave a “patchy,” “operated-on”
look that generally detracts from the result.
Pedicled Osteopericranial
Calvarial flap

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Distraction Osteogenesis

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Nager Syndrome
Acrofacial dysostosis AD
Face:
Downward slant of palpebrae
Absent lower eyelashes
Scalp hair on cheeks
Absent/Hypoplastic Mandible
Microtia/Anotia
Middle ear anomalies
Cleft palate
Limb:
Absent Radial Limb
Missing Thumbs
Elbow Ankylosis

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Miller Syndrome
Postaxial acrofacial dysostosis AR
Face:
Downward slant of palpebrae
Retrognathia
Small cup ears
Broad nasal bridge
Cleft palate
Limb:
Short Bowed forearm
Preaxial (Ulnar) hypoplasia
Webbed/Missing fingers
Also fibula/tibia hypoplasia

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Miller Syndrome
Postaxial acrofacial dysostosis AR
Occasionally:
Cardiac anomalies
Pulmonary anomalies
GE Reflux
Vesicourethral (V-U) Reflux
Undescended testes
DDH
Extra Nipples

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Binder Syndrome
Maxillonasal dysplasia
Sporadic
Description:
Short nose
Flat bridge
Short columella
Acute nasolabial angle
Class III malocclusion
The Pierre-Robin
Sequence

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Sequence
Malformation sequence:
Pierre-Robin, Klippel-Feil
Deformation Sequence:
Potter, Digeorge, Amniotic Band,
Disruption sequence:
TORCHES, Alcohol Fetal Synd, Thalidomide
Vitamin A derivatives
Pierre Robin Sequence
Malformation sequence - the primary
defect triggers a chain of secondary and
tertiary events, resulting in what
appears to be multiple anomalies.
The later the defect is induced , the
simpler is the malformation.
Intrauterine
mandibular
hypoplasia
Failure of
tongue
descent
Robin sequence
Cleft
palate

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Clinical manifestations
Micrognathia
Glossoptosis
High arch palate \ Bifid Uvula \ Submucous cleft
AW obstruction OSAS SIDS
Feeding problems
Imaging

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Early treatment
Prone positioning & Sat%O 2 monitoring during sleep
In severe cases 24h prone positioning & monitoring
Oxygen supplementation
Gavage feedings
Medical Treatment
Very few require temporary endotracheal intubation,
tracheostomy or tongue-lip adhesion.
Late treatment
Most mandibles reach normal proportions
Surgical Treatment
Distraction Osteogenesis
For severe cases

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Moebius
Syndrome
Congenital Facial Diplegia
Oculofacial paralysis
Moebius Syndrome
First described by Von-Graefe 1880
Revised & Defined by Moebius 1888 / 92
Congenital Unilateral Palsy added by Henderson 1939
Hallmark:
Unilateral congenital facial (VII) & abducens (VI) palsies.
May be bilateral or involve only the facial N.
15% mild retardation
30% musculoskeletal.
Very rare – Only 300 cases described in English. M=F

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Pathophysiology
Remains Unknown
Brainstem Nuclei; Nerves or muscle Aplasia
Involved CN: 6-12 except 8
6 (Abducens) – 75%
7 (Facial) – 100%
8 (Vestibulocochlear) – Never
9,10,11 – Variable
12 (Hypoglossal) – Rare
3,4 (Oculomotor, Trochlear)– Very rare
Toxin induced (Moebius)
Vascular etiology:
Theories
- Basilar artery insufficiency
- Premature regression of trigeminal a.
- Subclavian a. disruption sequence
Mesodermal dysplasia of muscles from 1 0 & 2 0 Branchial
arches
CN Nuclei changes are 2 0 to retrograde atrophy
Disruption sequence of normal morphology @ 4-7 wks
(Explains simultaneous limb anomalies)

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Teratogens assoc. with Facial
paralysis
Thalidomide – Phocomelia, Auricle develop. arrest
Facial & Abducens CN paralysis
Misoprostol (PGE 1 Analogue) – Gastric ulcer
prevention & Rx. Combined with mifepristone or
MTX to induce abortion
If used alone 80% proceed to full term.
96 babies with Moebius – 49% exposed to misoprostol
May induce vascular disruption of subclavian a. during
4-7 weeks causing brain ischemia
Clinical Findings
Facial Diplegia:
Incomplete eye closure desiccation, ulceration
Weak Mouth closure Drooling, feeding difficulties,
food lodges in cheeks. Mastication normal
Swallowing (CN 9,10,12) May be impaired
In mild cases: Inability to smile, Lack of facial
expression, “Mask like” face, no wrinkling
Tremendous social handicap
Speech: inability to close mouth, no labial sounds: b,
v, m, p, ph
Intelligence: 10-15% Mild Retardation

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Associated anomalies
Anosmia, Hypogonadotropic hypogonadism – Kallman
Autism – 30-40% (Gillberg & Steffenburg)
Flat broad nose, Canthal displacement (Telecanthus)
Flat cheek bones, long face.
Arched palate, Bifid uvula
Microstomia, Micrognathia, Microglossia
Skin:
Absent S.Q fat Café Au Lait spots
Variable phenotype & Cross matching cause difficult
genetic counceling AD, AR, XL patterns described

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Musculoskeletal anomalies
In Moebius syndrome
Club foot (Bilateral)- 33%
Partial syndactyly
Axillary webs
Arthrogryposis
Congenital amputations
Hypoplasia of truncal muscles
(Poland’s synd) 15%
Differential diagnosis
Abducens CN (VI) palsy
Brainstem syndromes
Basilar artery thrombosis
Brainstem gliomas
Congenital muscular dystrophy
Congenital myopathies
Myasthenia gravis
Toxic neuropathies
Spinal muscular dystrophy
Myopathies &
Neuropathies are
progressive
Moebius is static but
may be severe or
even lethal (9/26)
Even tend to improve
with time
Inability to smile

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Imaging
CT\MRI – May demonstrate Bilateral calcifications
of Basal ganglia & CN nuclei (VI, VII)
EMG – denervation potentials (found 2-3 weeks
after perinatal trauma) may differentiate trauma
from mobius
Brain bipsy is pathognomonic – Calcified necrotic
brainstem CN nuclei
Classification
Towfighi et al
I – Simple hypoplasia atrophy of CN Nuclei
II – Primary lesions in peripheral CN
III – Focal necrosis in brainstem nuclei
IV – Primary myopathy, no CNS or CN lesions

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Grading of facial paralysis
House-Brackmann
I – Normal
II – Normal symmetry @ rest
III – Obvious but not disfiguring, eye can be closed
IV – Obvious asymmetry @ rest, partial eye closure
V – Barely perceptible movements
VI – No movement
Treatment
Facial reanimation techniques

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Acquired
Atrophy
Hypoplasia
Dysgenesis
Progressive
Hemifacial Atrophy
Romberg disease

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Parry-Romberg Syndrome
First described by Parry (1825)
Further defined by Romberg and Henoch
(1846)
Slowly progressive unilateral atrophy of
facial soft tissues in young adults
May also involve cartilage and bone
Progressive
Hemifacial Atrophy
Symptoms usually begin before 20 y
Progression is medial to lateral
Left > Right
Skin and adnexa:
Hyperpigmentation or vitiligo
Premature Graying
Premature Alopecia

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Hemifacial Atrophy
Associated Symptoms:
Trigeminal Neuralgia (Facial Pain)
Severe Headaches
Jacksonian Epilepsy (Contralateral)
Etiology – unknown
Course – Progression 3-5 y Stabilization
Theories: Sympathetic hyperstimulation??
DDx: Lipodystrophy – Only fat, Scleroderma
Reconstructive options
Bone: Can be augmented with autologous NVBG
contralateral Iliac crest or split calvarial.
Should be rigidly fixed.
Can use bone substitute PMMA or OHApatite
(Bone-source, Mimix, Norian)
Muscle: muscle flaps tend to atrophy after transfer
thus less recommended. Temporalis.
Fat: Fat injection has been recommended, tend to
resorb more in romberg disease
Skin and fat: Pericranial / Galeal flaps

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Primary / Congenital
Hyperplasia
Overgrowth
Hemihypertrophy
Beckwith-Wiedemann
Syndrome
Wiedemann (1964 Germany) Beckwith (1969 USA)
Familial omphalocele with macroglossia
EMG Triad: Exomphalos Macroglossia Gigantism
A Rare Genetic disorder on chr # 11p15.5
Imprinting: Maternal transmission Penetrance
Overexpression of: IGF-2 ; Insulin
1:14,000 L.B Sex & Race - Equal

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Beckwith-Weidemann
Syndrome
Hepato\Renomegaly
Uncontrolled hypoglycemia
Mental Retardation 2 0 to hypoglycemia
Increased risk for embryonal cancer:
Wilm’s tumor, Adrenocortical neoplasms
Primary / Congenital
Combined
Hyperplasia-Hypoplasia

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Etiology - trisomy 21
Down Syndrome
Incidence - 1:1600 L.B. 1:100 if mother over 40 y.
Description:
mongolian fold (epicanthus)
saddle nose
oblique lid axis (mongolian slant)
receding chin (microgenia)
macroglossia and hypotonia of the tongue
hypotonia of lower lip
submental fat collection (double chin)
protruding ears
Down Syndrome
Midface hypoplasia with class III malocclusion
Strabismus (30%).
Treatment
Partial glossectomy (shape of a Gothic arch)- has no effect
on speech (Wexler - there is effect) but may improve
malocclusion
Z-plasty for the epicanthal fold (should be done following
augmentation of the dorsum which corrects some of the
problem)
Otoplasy
Lateral canthoplasty
Le Fort I osteotomy and genioplasty
Augmentation of the zygoma and dorsum of the nose

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Glossectomies
A B
C
Different types of tongue resection: A - standard, B -
“Gothic arch” for long tongues, C - broad but short tongue.