Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_537_Библиотеки_им_академика_М_И_Перельмана
.pdf
(1)
(2)
©The Author(s), under exclusive license to Springer Nature Switzerland AG2023
E. Tokgöz, M. A. Carro, Cosmetic and Reconstructive Facial Plastic Surgery
https://doi.org/10.1007/978-3-031-31168-0_4
Surgical Reconstruction of Craniofacial
Malformations
MarinaA.Carro
1
, GabrielleDonofrio
1
and EmreTokgöz
2
The Frank H. Netter M.D. School of Medicine, Quinnipiac University,
North Haven, CT, USA
Whiting School of Engineering, Johns Hopkins University, Baltimore,
MD, USA
MarinaA.Carro(Corresponding author)
Email: Marina.Carro@quinnipiac.edu
GabrielleDonofrio
Email: gdonofrio@quinnipiac.edu
Keywords Etiology of congenital craniofacial defects – Prevalence of
craniofacial anomalies – Reconstructive plastic surgery for congenital
craniofacial anomalies – Techniques for aesthetic repair of cleft lip and
palate – Techniques for aesthetic repair of craniosynostosis – Technological
advancements in reconstruction of craniofacial anomalies – Long term
outcomes of congenital craniofacial defect repair
Marina A. Carro is a second-year medical student at the Frank H. Netter
School of Medicine (Quinnipiac University). Prior to medical school, she
worked as a project manager at Clínica Esperanza Hope Clinic in
Providence, Rhode Island, where she organized and managed a satellite
COVID-19 vaccination clinic for underserved populations in the area.
Additionally, she has worked as a certified nursing assistant for 3years in
the emergency department and intensive care unit at South County Hospital
in Kingston, Rhode Island. Currently, she is on the board for the Frank H.
https://t.me/medicina_free
Netter Wellness Committee, ENT Surgical Interest Group, and American
Medical Student Association at Netter. She hopes to continue exploring her
interests in clinical procedural research, healthcare business and
administration, and provide equitable healthcare for marginalized patients
throughout the rest of her career.
Gabrielle Donofrio is a third-year medical student at the Frank H. Netter
MD School of Medicine at Quinnipiac University. She received her
undergraduate degree from the University of Connecticut in 2019 and then
worked as a Certified Nurses Aide for 2years before starting medical
school. As a medical student, Gabrielle serves as the Secretary of the Class
of 2025, the President of the Dermatology Interest Group, and Student
Coordinator of the annual Rare Disease Day Symposium. Gabrielle also
serves as the Digital Director of Bobcat Kids, an after-school nutritional
education program taught to middle school students in New Haven, CT. Her
current clinical interests include dermatology, plastic surgery, and ENT.
Emre Tokgöz completed two Ph.D. degrees, one in Mathematics and
another one in Industrial Engineering, at the University of Oklahoma along
with a master’s degree in Computer Science and two master’s degrees in
Mathematics. Due to his interest in biomedical engineering applications of
mathematics and engineering, he pursued an online biomedical engineering
master’s degree for professionals at Johns Hopkins University. His other
research interests include nonlinear optimization, game theory,
deep/machine learning, financial engineering, facility allocation problems,
vehicle routing problems, systems’ design and improvement, network
theory and analysis, inventory systems, and Riemannian geometry.
1 Introduction
https://t.me/medicina_free
Recent medical advancements have allowed for targeted improvement and
reproducible technique in the correction of craniofacial malformations,
although documented reconstruction attempts date back to thousands of
years prior [1]. On average, congenital craniofacial malformations
contribute to one in every three congenital defects. While older data have
suggested a genetic etiology in 20% of cases, recent studies suggest greater
genetic involvement in craniofacial anomalies, including craniosynostosis
and isolated defects [2, 3].
There are five major categories of craniofacial deformities, introduced
by the Committee on Nomenclature and Classification of Craniofacial
Anomalies of the American Cleft Palate–Craniofacial Association. Facial
clefts with variable presentations (involving clefting of the lip, nose, and
oropharynx), encephaloceles, and craniofacial dysostosis comprise the first
category. Craniosynostosis is a separate category, and additional
malformations are associated with hypoplasia/atrophy and
neoplasia/hyperplasia, with any outliers designated as unclassified [4]. The
structure of the outcomes we present in this work is similar to those
presented in [104–139].
2 Review of Genetics and Prenatal Development
Development and growth of craniofacial skeleton is dependent on the
growth of precursor structures, notably the growth and expansion of neural
tissue, which allow for growth of the calvarium (skull precursor) and
cranium (facial precursor) [5]. The development of the face and its
associated structures begins early on in embryogenesis, between weeks four
and eight [6]. These structures develop from the pharyngeal arches,
pouches, and clefts. After the neuropore closes, there is enlargement of the
forebrain, which results in the formation of the frontonasal process [7].
2.1 Facial Clefts
Facial cleft anomalies commonly result from failed fusion of the bilateral
facial processes, especially in the case of orofacial clefting. Prior to fusion,
the epithelial tissue interrupting the bilateral tissues is eliminated via cell
migration, apoptosis, and transdifferentiation to mesenchymal cells. The
inability to fuse completely at the midline may be attributed to constricting
https://t.me/medicina_free
anatomic defects, apoptosis dysregulation, reduced proliferation of the
neural crest cells, and mesenchymal subunit underdevelopment [8–11].
Cleft lip and palate (CL/P) can occur in isolation, or together, and are a
common craniofacial malformation [12]. The incidence of CL/P together is
greater than either alone. In addition, unilateral clefts are seen more often
than bilateral clefts. The causes of CL/P can be non-genetic or genetic [13].
Nongenetic causes of CL/P include environmental risk factors such as
smoking, alcohol use, or certain drug exposures during pregnancy. Smoking
was seen to be a higher risk factor if the mother has positive genetic
findings [9]. Heavy alcohol consumption, especially during the first
trimester, can increase the risk of both fetal alcohol syndrome and CL/P.
Folic acid is important for prenatal health and a deficiency can increase the
risk of CL/P. In addition, certain drugs, such as corticosteroids and
anticonvulsants, have been found to increase the risk of CL/P [10].
CL/P can be syndromic or nonsyndromic, with syndromic cases
occurring along with another congenital abnormality. Nonsyndromic cases
account for 70% of CL/P and there are multiple genes that have been
implicated [14].The FGFR receptors bind fibroblast growth factors (FGFs)
and are integral in various cell migration, differentiation, and proliferation
pathways. Neural crest migration is induced via FGFR1 signaling among
other mechanisms, and the production of defective FGFR1 is associated
with midline facial clefting (mouse models) [15]. In addition to the isolated
presentation of midline facial clefting, genetic defects lending to
nonfunctional FGFR1 are linked to syndromic cleft lip and palate with
Kallman syndrome (type 2) [16].
2.2 Craniosynostosis
Craniofacial synostosis is defined as the premature closure of one or more
cranial sutures, although there is not a clearly established consensus
regarding the multifactorial etiology of this premature growth defect [17,
18]. There have been documented cases of craniosynostosis secondary to
sutural biological abnormalities, defects in the affected primary bone
growth centers, and pathological biomechanical forces. Nonsyndromic
craniosynostosis is associated with autosomal dominant MSX2 homeobox
gene mutations (encodes DNA-binding transcription factors) [19, 20].
Syndromic craniosynostosis (associated with a set of other symptoms
characteristic of a previously defined disorder) is shown to be primarily
https://t.me/medicina_free
genetic in etiology through dominant or recessive gene inheritance.
Presentation tends to vary with gender as cisgender females more
frequently develop coronal and lambdoid synostosis and cisgender males
present with metopic and sagittal synostosis [3].
2.3 Craniofacial Microsomia
Disruption of growth in the first and second pharyngeal arches is attributed
to the development of craniofacial microsomia. Mandibular and maxillary
hypoplasia refer to conditions in which the mandible or maxillary bones are
underdeveloped, lending to the appearance of an overbite or underbite. As
discussed in chapter “Aesthetic Surgery of the Nose and Lower Face”,
genioplasty is frequently utilized to correct the aesthetic appearance of
mandibular hypoplasia, or micrognathia. However, there is often an
underlying malocclusion, and these should be diagnosed and corrected with
orthodontic treatment [21, 22].
Micrognathia is usually syndromic and may be accompanied by cleft lip
or palate and relative macroglossia (large tongue) as with Pierre Robin
sequence [23]. Additional syndromic conditions include Auriculocondylar
Syndrome (ACS), Hemifacial Microsomia (HFM), Treacher-Collins
Syndrome (TCS), and Stickler syndrome. Less commonly, micrognathia is
noted with Velocardiofacial syndrome (VCFS) [24].
Alternatively, maxillary hypoplasia (pseudoprognathism) presents
syndromically with Crouzon syndrome and Angelman syndrome. The
underdevelopment of the maxilla is additionally associated with fetal
alcohol syndrome, cleft lip/palate, and may present after complicated dental
extractions [25, 26]. The repair of these variable defects is an extensive
discussion which will not be covered in this chapter, but we invite the
reader to investigate the current techniques used in reconstruction and the
role of virtual surgical planning in Birgfeld and Heike’s review article
[103].
3 Surgical Reconstruction of Cleft Lip and Palate
3.1 Review of Relevant Anatomy
Cleft lip deformities are classified as complete clefts or incomplete clefts,
depending on the extent of facial deformity. As previously discussed, cleft
deformities result from failed fusion of embryologic facial prominences.
https://t.me/medicina_free
The general overview of embryologic processes and resultant cleft
presentation is detailed in Table 1 [27, 28]:
Table 1 Timeline of embryonic facial development
Embryonic
development
in utero
(weeks)
Embryonic developments Facial structures Result of
disrupted
development in
time frame
4 Appearance of maxillary
prominences and nasal
placodes from first pharyngeal
arch
5 Invagination of nasal placodes,
appearance of lateral and
medial nasal prominences
6–7 A. Midline fusion of bilateral
medial nasal prominences
B. Midline fusion of maxillary
prominences
C. Midline fusion of deep
medial and medial nasal
prominences
D. Midline fusion of lateral
nasal prominences
A. Medial upper lip
B. Lateral upper lip
C. Primary palate (deep
medial); nasal philtrum,
columella, nasal tip (medial)
D. Nasal development
Cleft lip
Incomplete:
Partial upper lip
fusion
Complete: No
upper lip fusion
6–12 Lateral palatine processes
develop from medial maxillary
processes, fuse at midline
Secondary palate Cleft palate
The development and attachments of the orbicularis oris muscle play a
large role in cleft deformities. With minimal incomplete clefts (microform
cleft lip), the muscle grows relatively normally at the superior aspect
despite lower muscle deviation into the cleft. When the orbicularis oris m.
inserts at the nasal columella medially and ala laterally, there is no
functional oral sphincter, and this is indicative of complete cleft lip [29].
In cases of bilateral muscle attachment to the nasal alar cartilage, a
bilateral cleft lip is noted. This results in protrusion of the prolabial tissues
and primary palate. All of the aforementioned defects have the potential to
impact nasal development, leading to unilateral nasal deviation or broad
nasal tip [30] (Figs. 1 and 2).
https://t.me/medicina_free
Fig. 1 The images above show patients who present with incomplete unilateral cleft lip deformities
[31]
https://t.me/medicina_free
Fig. 2 The images above show patients presenting with complete unilateral cleft lip deformities [31]
3.2 Preoperative Patient Assessment
Cleft lip malformations can be diagnosed at 18weeks with 2D prenatal
ultrasound, although 3D ultrasound is a better technique for accurate
detection of cleft palate. With early diagnosis, MRI is generally indicated to
assess for presence of intracranial defects or additional malformations.
After birth, patients present with reflux or distress while breastfeeding,
delayed eating, difficulty latching, and/or visible lip or palatal defect [32,
33].
https://t.me/medicina_free
Feeding and respiratory symptoms are addressed at the initial consult
prior to surgery. A speech therapist will discuss feeding techniques and
recommend devices to improve food intake and weight gain. Surgery is
usually performed when the infant is 10weeks old and weighs at least 10
pounds, although this subject is debated in the literature.
Most patients are indicated for repair after confirmed diagnosis of cleft
deformity, although there are relative contraindications or delays. These
include [34, 35]:
Urgent prioritized surgery to correct additional defects (e.g.,
cardiovascular anomalies).
Inability to tolerate general anesthesia.
Inability to obtain informed consent from parents or guardians.
Weight<10 lbs., Hb<10.
A series of palatal devices can be utilized to bring the alveolar arches
toward the midline and narrow the cleft appropriately in preparation for
surgery. Tape adhesion across the upper lip helps to reduce growth of cleft
lip deformities [36] (Fig. 3).
https://t.me/medicina_free
Fig. 3 The above image shows an orthognathic palatal device, which is best utilized in younger
patients to prepare the palate for future surgery [37]
3.3 Surgical Techniques
Cleft lip is typically repaired first using staged surgical reconstruction, and
the techniques vary depending on the nature of the cleft. Special attention is
given to the bilateral Cupid’s bow peaks, as these structural landmarks
require precise positioning if aesthetic continuity of the upper lip is to be
achieved.
3.3.1 Unilateral Cleft Lip
Millard’s technique, also referred to as the rotation-advancement technique,
relies on the creation of orbicularis oris muscle flaps from the medial and
lateral cleft sides. An advancement flap is made from the lateral aspect,
which will bring the tissues closer to the midline. The medial cleft is rotated
using a local flap, which brings the tissues together inferiorly. This
technique is advantageous in that it allows access to the nasal cartilages,
https://t.me/medicina_free
Соседние файлы в папке Библиотека им академика М.И. Перельмана