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_4496_Библиотеки_им_академика_М_И_Перельмана
.pdf
104
Hyperplasias non-syndromal
https://t.me/medicina_free
U. Meyer and V. Kerkfeld
discussed in the literature, recent studies have
suggested that no signicant catchup growth of
the mandible in PRS occurs in the rst 22months
of life. The differential growth shown in these
studies does not improve the size of the pharyngeal airway but does improve the relative size of
the oropharynx, which can have a positive effect
on breathing difculties. There is normally no
eye or ear involvement. The most prominent feature is the micrognathic state, often accompanied
by a cleft palate of various extents.
Hyperplastic/Overgrowth Diseases
The term overgrowth generalizes abnormally tall
stature and is used to describe three phenotypes:
prenatal overgrowth, postnatal overgrowth, or
segmental overgrowth. In the prenatal overgrowth
group, Beckwith-Wiedemann syndrome (BWS)
is included. Affected individuals may continue to
show an accelerated growth postnatally (pre- and
postnatal overgrowth) or may grow at a normal
pace with length falling within 2 SDs of the
mean. The postnatal overgrowth phenotype
includes individuals who are noticed to have an
accelerated growth pattern starting typically in
childhood or adolescence. Marfan syndrome,
homocystinuria, Klinefelter syndrome, and
47-XYY syndrome are typical syndromes in this
group.
A phenotype of excessive growth that is conned to one or a few regions of the body is called
segmental overgrowth, e.g., one side of the face,
or the entire head can be affected. It can be
expressed as symmetrical or asymmetrical
growth of musculoskeletal, adipose, and/or brain
tissue along with focal hyperplasia of capillary
venous or lymphatic vessels and overlying skin
lesions. Patients are more likely to present to
medical attention due to the unaesthetic nature of
the asymmetric growth. Overgrowth syndromes
can be associated with hormone imbalance, lifethreatening hypoglycemia (e.g., BWS), seizures
(Sotos syndrome), developmental delay (Sotos
syndrome, Weaver syndrome), and an increased
susceptibility to malignancy (Wilms’ tumor, hepatoblastoma, etc.). Clinicians should therefore
maintain a high index of suspicion for a prompt
diagnosis.
Unilateral
Non-syndromal
One-sided overgrowth of the mandible (and often
the maxilla) is known to result in facial asymmetries and constitutes a well-recognized group of
condylar
Fig. 8.4 Facial phenotypes of non-syndromal hyperplasia. (All photographs by Meyer)
hemimandibular
hemifacial
Hyperplasias - non syndromal
bimaxillar
mandible onl
8 Diagnosis andClassication ofBranchial Arch Diseases
https://t.me/medicina_free
105
condylar
hemimandibular hemifacial
y
y (open bite)
Fig. 8.5 Skeletal appearance of condylar hyperplasia, hemimandibular hyperplasia, and hemifacial hyperplasia. (All
photographs by Meyer)
unilateral mandibular enlargements. If a onesided open bite is missing, the maxilla has also a
one-sided overgrowth situation. Non-syndromal
asymmetric hyperplasias can be subclassied
into condylar hyperplasia, hemimandibular
hyperplasia/hemimandibular elongation, or, as a
much rarer disorder, hemifacial hyperplasia (or
hemifacial hypertrophy) (Fig. 8.4). In all these
malformations, the facial phenotype is characterized by prominent unilateral overdevelopment of
the hard and soft tissues of the face to different
extents. The affected side grows at a faster rate
than the non-affected side, creating a marked
asymmetry that potentially involves the skeleton
and teeth (Fig.8.5), as well as all components of
the associated soft tissues. Hemifacial states are
often identied at birth and progress towards
puberty but are not thought to alter throughout
the lifetime of affected individuals (Fig.8.6).
termed as facial hemihyperplasia, partial/unilateral gigantism, hemimacrosomia, and hemifacial
hyperplasia. Congenital hemifacial hyperplasia
was rst noted by Meckel JF in 1822, and, later,
the rst case was reported by Wagner in 1839
[97]. HFH affects the facial soft tissues, bone,
and associated structures [98]. Later, Gesell
described this lesion as being “essentially a
developmental anomaly antedating birth and
arising in partial deection of the normal process
of birth” [99]. Asymmetry in HFH is usually
obvious at birth and accentuated at the end of
adolescence. The prevalence rate of HFH is
1:86,000 live births [100]. It was subclassied
into true hemifacial hyperplasia (TFHF), presenting unilateral enlargement of the viscerocranium
extending superiorly from the frontal bone (not
including the eye) to the inferior border of the
mandible and from the midline to the pinna of the
ear with enlargement of all soft tissues, teeth, and
Hemifacial Hyperplasia
Hemifacial hyperplasia (HFH) is a rare congenital developmental disorder characterized by
asymmetrical overgrowth of one or more body
parts. Synonymously, this condition has been
bone in the area and partial hemifacial hypertrophy (PHFH) if the enlargement is limited to one
structure.
This asymmetrical overgrowth traditionally
referred to as hypertrophy is more accurately
106
Growth development
https://t.me/medicina_free
U. Meyer and V. Kerkfeld
from childhood
to adulthood
Fig. 8.6 Hyperplasia may be present directly after birth; they are obvious in childhood and develop markedly until
adulthood (patient with hemimandibular hyperplasia). (All photographs by Meyer)
termed as hyperplasia as this pathologic process
involves abnormal proliferation of cells (hyperplasia) rather than growth of individual existing
cells (hypertrophy). Radiographically, this lesion
presents with hard tissue and soft tissue enlargement on the affected side. These patients exhibit
premature development and alter crown and root
size/shape discrepancy along with a downward
slant of the occlusal plane.
The etiology of HFH is unknown. Over the
last decades, several theories were suggested.
However, several possible etiologic factors have
8 Diagnosis andClassication ofBranchial Arch Diseases
https://t.me/medicina_free
107
been suggested including endocrine dysfunctions,
chromosomal abnormalities, central nervous system disorders [101], vascular or lymphatic malformations, and somatic mutations. Few studies
supported heredity as a potential cause [102].
Another study suggested disturbances in the
development of the rst branchial arch overgrowth [103]. An embryological hypothesis put
forth by Pollock etal. postulates increased number of neural crest cells on the enlarged half of
the neural tube [104]. The increased number of
crest cells continues through pre- and postnatal
growth periods of life, resulting in unilateral
overgrowth of the crest-derived structures. Gesell
attributed congenital hemihyperplasia to deviation from normal process of twinning, which suggests an inequality of regulatory abilities in
embryologic development leading to an aberrant
twinning mechanism [99]. Noe and Berman postulated as the main cause damage of mitochondria in an overripe one half of the fertilized egg
resulting in overgeneration of cells [105].
Yoshimoto etal. concluded that the pathogenesis
is thought to be due to basic broblast growth
factor along with its receptor-stimulated osteoblastic differentiation on the affected side in
comparison with the normal part of the face
[106]. In the 2015 study, Yamazaki etal. reported
that facial overgrowth may result from a downregulation of phosphatase-tensin homolog transcripts [107]. Histologically, according to Pollock
etal. the overgrowth process involves an increase
in the number of cells rather than in size.
Hemimandibular Hyperplasia
Hemimandibular hyperplasia is a rare disorder
that involves the three-dimensional volumetric
enlargement of one half of the mandible [108–
112]. Affected individuals have facial asymme-
try due to abnormal growth of the involved
condyle, condylar neck, ramus, and mandibular
body up to and ending at the symphysis. The
affected growth is accentuated towards the bony
structures, whereas the soft tissue enlargement
is relatively low.
Condylar Hyperplasia
Condylar hyperplasia (CH) can be dened as the
excessive growth of one condyle over the contralateral, causing an increase in bone mass of varying degrees in instances where the subject’s
growth has decreased or ceased [113]. Condylar
hyperplasia is known to result in facial asymmetries and constitutes a well-recognized group of
unilateral mandibular enlargements [114].
Initially, this condition was reported by Lohmann
in 1918 and Gruca and Meisels in 1926 [115].
Afterwards, an extensive literature review was
carried out in 1946 by Rushton, wherein a total of
32 cases were found to be reported by 1946
[116].
The etiopathogenesis is still unclear, but certain theories have been suggested, which include
trauma, hormonal imbalance, infection, arthrosis,
hypervascularity, and possibly genetic role. CH
has been reported to be a rare entity with a very
few cases being reported in literature, mostly
seen between 11 and 30years of age, with males
and females being equally affected and having no
predominance for the left or right side. It has also
been reported to be a self-limiting condition, that
is, the active growth can cease at any point of
time [117–120].
Syndromal
In contrast to hyperplasia as an isolated nding,
several syndromes like Beckwith-Wiedemann
syndrome, Sotos syndrome, Weaver syndrome,
Proteus syndrome, and Russell-Silver syndrome
demonstrate hyperplasia of branchial arch structures (Fig.8.5).
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome (BWS) is a human
imprinting disorder that leads to overgrowth.
Epidemiology
BWS has an estimated prevalence of 1 affected
child in 10,340 live births [121], with an increased
risk associated with assisted reproductive technologies (ARTs) of around 1in 1100 [122–124].
BWS is now considered a spectrum (BWSp)
108
https://t.me/medicina_free
U. Meyer and V. Kerkfeld
ranging from classic BWS to isolated lateralized
overgrowth [125, 126].
Genetics
It is associated with genetic and epigenetic
changes on the chromosome 11p15 region [127],
which includes imprinted genes that regulate
fetal and postnatal growth. BWS involves molecular aberrations within a cluster of imprinted
genes on the chromosome 11p15.5–11p15.4
region.
Clinical Manifestation
BWS is often diagnosed neonatally or in early
childhood and has a broad clinical spectrum of
features that vary in severity. These features
include macroglossia, abdominal wall defects,
lateralized overgrowth, enlarged abdominal
organs, and an increased risk for developing
embryonal tumors during early childhood [125].
Macroglossia is seen in about 90% of patients
with BWS [128, 129].
Bilateral
Non-syndromal
Bilateral maxillo-mandibular or facial overgrowth can be found as a variance of the normal
skull development. Such slight overgrowth situation can be based on genetic, epigenetic, or functional factors. The facial phenotype contrasts
with syndromal diseases not profoundly altered.
Syndromal
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel (SGB) syndrome is an
X-linked prenatal and postnatal overgrowth syndrome associated with characteristic dysmorphic
features [130]. Affected individuals typically
exhibit increase in all growth parameters (>97%
in length, weight, and head circumference).
Epidemiology
The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 250 people worldwide have been diagnosed with this disorder.
Fig. 8.7 Patients with typical overgrowth syndrome phenotype. Sotos syndrome. (Source: Sogaard M, BMC Medical
Genetics 2005, 6:21)
8 Diagnosis andClassication ofBranchial Arch Diseases
https://t.me/medicina_free
109
Genetics
It affects primarily males and is associated with
loss-of-function variants in the growth modulator
proteoglycan, GPC3 on Xq26.2 [131].
Clinical Manifestation
Macrocephaly is reported in 70% of cases; other
common features include ocular hypertelorism
(wide-spaced eyes) with broad upturned nose,
macroglossia, macrostomia (large mouth), supernumerary nipples, pectus excavatum, and hypotonia. Less common features include congenital
heart defect (seen in ~36%), polydactyly with
nail hypoplasia, dental malocclusion, rib anomalies, cleft lip or palate (observed in ~13%), visceromegaly, umbilical hernia, and genitourinary
anomalies (cryptorchidism, gonadal dysgenesis).
Sotos Syndrome
Sotos syndrome, previously referred to as cerebral
gigantism, is an overgrowth syndrome characterized
by a triad of (1) overgrowth (increased height, macrosomia, and macrocephaly), (2) characteristic facial
features, and (3) learning disabilities and intellectual
disabilities [132] (Fig.8.7).
Epidemiology
The incidence of Sotos syndrome is unknown.
Genetics
Mutations in the NSD1 gene cause Sotos syndrome. The NSD1 gene provides instructions for
making a protein (histone methyltransferase) that
is involved in normal growth and development.
The function of this protein is unknown, however. In the Japanese population, the most common genetic change leading to Sotos syndrome
deletes genetic material from the region of chro-
mosome 5 containing the NSD1 gene. In other
populations, small mutations within the NSD1
gene occur more frequently [133, 134]. When the
phenotypic and laboratory ndings suggest the
diagnosis of Sotos syndrome, molecular genetic
testing approaches can include single-gene testing or use of a multigene panel (Fig.8.5).
Clinical Manifestation
Classic facial characteristics include frontal bossing, dolichocephaly (elongated occipito-frontal
axis), and frontoparietal balding seen in >90% of
patients. Early eruption of deciduous teeth and
high-arched palate are common as well.
Weaver Syndrome
Weaver syndrome is an accelerated growth syndrome dened by increased height and weight
(>2D), advanced bone age, broad forehead with
at occiput, excess loose skin, camptodactyly
[bent nger(s) due to proximal interphalangeal
joint abnormality], and variable degrees of intellectual disability (seen in 80% of patients) [135].
Epidemiology
The prevalence is estimated to be like that of
Sotos syndrome, around 1in 15,000.
Genetics
Weaver syndrome is a rare autosomal dominant
genetic disorder [136]. The cause for Weaver
syndrome was identied in 2011 as autosomal
dominant mutations in the EZH2 gene on chromosome 7q36.
Clinical Manifestation
Characteristic facial appearance includes hypertelorism (widely spaced eyes), large ears, and a
“stuck-on” protruding chin. Weaver syndrome
and Sotos syndrome are often mistaken for one
another due to their signicant phenotypic overlap and similarities. Features distinguishing
Weaver syndrome from Sotos syndrome include
broad forehead and face, ocular hypertelorism,
prominent wide philtrum, micrognathia, deep-set
nails, retrognathia with a prominent chin crease,
increased prenatal growth, and a carpal bone age
that is greatly advanced compared to metacarpal
and phalangeal bone age.
110
from the cells with the altered AKT1 gene
Biological development of partial overgrowth
Pr
https://t.me/medicina_free
Table 8.4 Pathogenesis of Proteus syndrome demonstrates the complex genesis of some syndromes, indicative of the
difculty to determine a correct diagnosis
Fertilized egg from
which all body cells arise
U. Meyer and V. Kerkfeld
oteus syndrome
As the cells continue to
divide, the DNA in one of
the cells becomes altered
The developing baby has
two types of cells. Some
have the normal AKT1 gene
and somehave the altered
AKT1 gene
Fertilized egg divides into
many cells to form an embryo
The AKT1 gene in one of
the cells changes – where
GA
As the cells of the growing embryo
continue to divide, the number of both
the cells with a changed AKT1 gene and
the cells with an unchanged AKT1 gene
expand and contribute to the formation of
organs and tissues
The parts of the body that developed
grow differently than normal cells. This is
why the body parts of people with
Proteus syndrome are unevenly affected.
the DNA code should have
a ''G,'' it has an ''A'' instead
(from http://www.genome.gov/pressDisplay.cfm?photoID=20253, Public Domain)
All photographs by Meyer
Partial
Proteus Syndrome
Proteus syndrome is a rare disorder with a genetic
background [137] that can cause tissue over-
8 Diagnosis andClassication ofBranchial Arch Diseases
https://t.me/medicina_free
111
growth involving all three embryonic lineages
(Table8.4).
Epidemiology
Only a few more than 200 cases have been conrmed worldwide, with estimates that about 120
people are currently alive with the condition
[138].
Genetics
Lindhurst identied an activating mutation in
AKT1 kinase in a mosaic state gene [139].
Previous research had suggested the condition
linked to PTEN on chromosome 10, while other
research pointed to chromosome 16. Prior to the
ndings regarding AKT1in 2011, other researchers expressed doubt regarding the involvement of
PTEN or GPC3, which codes for glypican 3 and
may play a role in regulating cell division and
growth regulation.
Clinical Manifestation
Proteus syndrome causes an overgrowth of skin,
bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is a progressive
condition wherein children are usually born without any obvious deformities. Tumors of skin and
bone growths appear as they age typically in
early childhood. The musculoskeletal manifestations are cardinal for the diagnosis of Proteus
syndrome. The severity and locations of these
various asymmetrical growths vary greatly, but
typically the skull, one or more limbs, and soles
of the feet will be affected.
References
1. Meyer U, editor. Fundamentals of craniofacial malformations. Cham: Springer; 2021.
2. Weinberg SM, et al. Hunting for genes that shape
human faces: initial successes and challenges for the
future. Orthod Craniofac Res. 2019;22:207–12.
3. Weinberg SM, Cornell R, Leslie EJ. Craniofacial
genetics: where have we been and where are we
going? PLoS Genet. 2018;14:e1007438.
4. Dixon MJ, Marazita ML, Beaty TH, Murray JC.Cleft
lip and palate: understanding genetic and environmental inuences. Nat Rev Genet. 2011;12:167–78.
5. Paternoster L, etal. Genome-wide association study
of three-dimensional facial morphology identies a
variant in PAX3 associated with nasion position. Am
J Hum Genet. 2012;90:478–85.
6. Liu F, etal. A genome-wide association study identies ve loci inuencing facial morphology in
Europeans. PLoS Genet. 2012;8:e1002932.
7. Jacobs LC, et al. Intrinsic and extrinsic risk factors for sagging eyelids. JAMA Dermatol.
2014;150:836–43.
8. Adhikari K, etal. A genome-wide association scan
implicates DCHS2, RUNX2, GLI3, PAX1 and
EDAR in human facial variation. Nat Commun.
2016;7:1–11.
9. Pickrell JK, et al. Detection and interpretation of
shared genetic inuences on 42 human traits. Nat
Genet. 2016;48:709–17.
10. Shaffer JR, et al. Genome-wide association study
reveals multiple loci inuencing normal human
facial morphology. PLoS Genet. 2016;12:1–21.
11. Cole JB, et al. Genomewide Association Study of
African Children Identies Association of SCHIP1
and PDE8A with facial size and shape. PLoS Genet.
2016;12:e1006174.
12. Lee MK, et al. Genome-wide association study of
facial morphology reveals novel associations with
FREM1 and PARK2. PLoS One. 2017;12:1–13.
13. Crouch DJM, et al. Genetics of the human face:
identication of large-effect single gene variants.
Proc Natl Acad Sci U S A. 2018;115:E676–85.
14. Claes P, et al. Genome-wide mapping of globalto- local genetic effects on human facial shape. Nat
Genet. 2018;50:414–23.
15. Endo C, et al. Genome-wide association study in
Japanese females identies 15 novel skin related
trait associations. Sci Rep. 2018;8:8974.
16. Cha S, etal. Identication of ve novel genetic loci
related to facial morphology by genome-wide association studies. BMC Genomics. 2018;19:481.
17. Howe LJ, etal. Investigating the shared genetics of
non-syndromic cleft lip/palate and facial morphology. PLoS Genet. 2018;14:e1007501.
18. Qiao L, et al. Genome-wide variants of Eurasian
facial shape differentiation and a prospective model
of DNA based face prediction. J Genet Genomics.
2018;45:419–32.
19. Wu W, etal. Whole-exome sequencing identied four
loci inuencing craniofacial morphology in northern
Han Chinese. Hum Genet. 2019;138:601–11.
20. Li Y, et al. EDAR, LYPLAL1, PRDM16, PAX3,
DKK1, TNFSF12, CACNA2D3, and SUPT3H gene
variants inuence facial morphology in a Eurasian
population. Hum Genet. 2019;138:681–9.
21. Xiong Z, et al. Novel genetic loci affecting facial
shape variation in humans. eLife. 2019;8:e49898.
22. White JD, etal. Insights into the genetic architecture
of the human face. Nat Genet. 2021;53(1):45–53.
23. Kerkfeld V, etal. Genomic aspects for the diagnosis of craniofacial disorders. In: Meyer U, editor.
Fundamentals of craniofacial malformations. Cham:
Springer; 2021.
24. Pruzansky S.Not all dwarfed mandibles are alike.
Birth Defects. 1969;5:120.
112
https://t.me/medicina_free
U. Meyer and V. Kerkfeld
25. David DJ, Mahatumarat C, Cooter RD.Hemifacial
microsomia: a multisystem classication. Plast
Reconstr Surg. 1987;80:525–35.
26. Vento AR, LaBrie RA, Mulliken JB. The
O.M.E.N.S. classication of hemifacial microsomia.
Cleft Palate Craniofac J. 1991;28:68–76. https://doi.
org/10.1597/1545- 1569(1991)0282.3.CO;2.
27. Horgan JE, Padwa BL, LaBrie RA, Mulliken
JB. OMENS-Plus: analysis of craniofacial and
extracraniofacial anomalies in hemifacial microsomia. Cleft Palate Craniofac J. 1995;32:405–12.
28. Poswillo D. The aetiology and pathogenesis of craniofacial deformity. Development.
1988;103(Suppl):207–12.
29. Huisinga-Fischer CE, Vaandrager JM, PrahlAndersen B. Longitudinal results of mandibular
distraction osteogenesis in hemifacial microsomia. J
Craniofac Surg. 2003;14:924–33.
30. Hirschfelder U, Piechot E, Schulte M, Leher
A.Abnormalities of the TMJ and the musculature in
the oculoauriculo-vertebral spectrum (OAV). A CT
study. J Orofac Orthop. 2004;65:204–16.
31. Suzuki N, Miyazaki A, Igarashi T, Dehari H,
Kobayashi JI, Miki Y, Ogi K, Nagai I, Sonoda
T, Yotsuyanagi T, Hiratsuka H. Relationship
between mandibular ramus height and masticatory muscle function in patients with unilateral
hemifacial microsomia. Cleft Palate Craniofac J.
2017;54:43–52.
32. Rune B, Sarnas KV, Selvik G, Jacobsson
S. Roentgen stereometry with the aid of metallic
implants in hemifacial microsomia. Am J Orthod.
1983;84:231–47.
33. Polley JW, Figueroa AA, Liou EJ, Cohen
M. Longitudinal analysis of mandibular asymmetry in hemifacial microsomia. Plast Reconstr Surg.
1997;99:328–39.
34. Kusnoto B, Figueroa AA, Polley JW. A longitudinal three-dimensional evaluation of the growth
pattern in hemifacial microsomia treated by mandibular distraction osteogenesis: a preliminary report. J
Craniofac Surg. 1999;10:480–6.
35. Meazzini MC, Mazzoleni F, Bozzetti A, Brusati
R. Comparison of mandibular vertical growth
in hemifacial microsomia patients treated with
early distraction or not treated: follow up till the
completion of growth. J Craniomaxillofac Surg.
2012;40:105–11.
36. Ongkosuwito EM, van Vooren J, van Neck JW,
Wattel E, Wolvius EB, van Adrichem LN, KuijpersJagtman AM.Changes of mandibular ramal height,
during growth in unilateral hemifacial microsomia
patients and unaffected controls. J Craniomaxillofac
Surg. 2013;41:92–7.
37. Grabb WC.The rst and second branchial arch syndrome. Plast Reconstr Surg. 1965;36:485–508.
38. Singh DJ, Bartlett SP.Congenital mandibular hypoplasia: analysis and classication. Craniofac Surg.
2005;16(2):291–300.
39. Ashokan CS, Sreenivasan A, Saraswathy
GK.Goldenhar syndrome—review with case series.
J Clin Diagn Res. 2014;8(4):ZD17–9.
40. Berker N, Acaroğlu G, Soykan E. Goldenhar’s
syndrome (oculo-auriculo-vertebral dysplasia)
with congenital facial nerve palsy. Yonsei Med J.
2004;45(1):157–60.
41. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W,
Martin AO. Oculoauriculovertebral dysplasia and
variants: phenotypic characteristics of 294 patients.
Am J Med Genet. 1986;26(2):361–75.
42. Heike CL, Luquetti DV, Hing AV. Craniofacial
microsomia overview. In: Adam MP, Ardinger HH,
Pagon RA, et al., editors. GeneReviews®. Seattle:
University of Washington; 2009.
43. Figueroa AA, Pruzansky S.The external ear, mandible and other components of hemifacial microsomia.
J Maxillofac Surg. 1982;10(4):200–11.
44. Birgfeld C, Heike C.Craniofacial microsomia. Clin
Plast Surg. 2019;46(2):207–21.
45. Zelante L, Gasparini P, Castriota Scanderbeg A,
Dimitri L, Criconia M, Gorlin RJ.Goldenhar complex: a further case with uncommon associated
anomalies. Am J Med Genet. 1997;26:418–21.
46. Ignacio Rodríguez J, Palacios J, Lapunzina
P. Severe axial anomalies in the oculo-auriculovertebral (Goldenhar) complex. Am J Med Genet.
1993;47:69–74.
47. Optiz JM.Blastogenesis and the “primary eld” in
human development. In: Optiz JM, Paul NW, editors. Blasogenesis: normal and abnormal. NewYork:
Wiley-Liss; 1994. p.3–37.
48. Bogusiak K, Puch A, Arkuszewski P. Goldenhar
syndrome: current perspective. World J Pediatr.
2017;13(5):405–15.
49. Nakajima H, Goto G, Tanaka N, Ashiya H,
Ibukiyama C.Goldenhar syndrome associated with
various cardiovascular malformations. Jpn Circ J.
1998;62:617–20.
50. Barisic I, Odak L, Loane M, Garne E, Wellesley
D, Calzolari E, Dok H, Addor MC, Arriola L,
Bergmann J, Bianca S, Doray B, Khoshnood B,
Klungsoyr K, Mc Donnell B, Pierini A, Rankin J,
Rissmann A, Rounding E, Queisser-Luft A, Scarano
G, Tucker D. Prevalence, prenatal diagnosis and
clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum
Genet. 2014;22(8):1026–33.
51. Beleza-Meireles A, Hart R, Clayton-Smithm J,
Oliveira R, Reis CF, Venâncio MF, Ramos J, Sá L,
Ramos E, Cunha LM, Pires IM, Carreira R, Scholey
R, Wright JE, Urquhart TA, Briggs B, Kerr H,
Kingston K, Metcalfe D, Donnai WG, Newman JM,
Saraiva M, Tassabehj I. Oculo-auriculo-vertebral
spectrum: clinical and molecular analysis of 51
patients. Eur J Med Genet. 2015;58(9):455–65.
52. Bukowska-Olech E, Sowińska-Seidler A, Łojek F,
Popiel D, Walczak-Sztulpa J, Jamsheer A. Further
phenotypic delineation of the auriculocondylar syn-
8 Diagnosis andClassication ofBranchial Arch Diseases
https://t.me/medicina_free
113
drome type 2 with literature review. J Appl Genet.
2021;62(1):107–13.
53. Cosman B, Bellin H, Crikelair GF. The question
mark ear. Plast Reconstr Surg. 1970;46:454–7.
54. Bernier FP, Caluseriu O, Ng S, Schwartzentruber
J, Buckingham KJ, Innes AM, Jabs EW, Innis JW,
Schuette JL, Gorski JL, Byers PH, Andelnger G, Siu
V, Lauzon J, Fernandez BA, McMillin M, Scott RH,
Racher H, Majewski J, Nickerson DA, Shendure J,
Bamshad MJ, Parboosingh JS.Haploinsufciency of
SF3B4, a component of the pre-mRNA spliceosomal
complex, causes Nager syndrome. Am J Hum Genet.
2012;90(5):925–33.
55. Hall BD. Nager acrofacial dysostosis: autosomal
dominant inheritance in mild to moderately affected
mother and lethally affected phocomelic son. Am J
Med Genet. 1989;33:394–7.
56. Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski
L, Ophir D. Autosomal recessive inheritance
of Nager acrofacial dysostosis. J Med Genet.
1988;25:230–2.
57. Aylsworth AS, Lin AE, Friedman PA.Nager acrofacial dysostosis: male-to-male transmission in 2 families. Am J Med Genet. 1991;41:83–8.
58. Fang J, et al. Protein instability and functional
defects caused by mutations of dihydro-orotate
dehydrogenase in Miller syndrome patients. Biosci
Rep. 2012;32:631–9.
59. Rainger J, et al. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically
distinct subgroup of postaxial acrofacial dysostosis
associated with partial deciency of DHODH.Hum
Mol Genet. 2012;21:3969–83.
60. Genée E.Une forme de dysostose mandibulo-faciale
[A form of mandibulo-facial dysostosis]. J De Génét
Humaine. 1969;17:45–52.
61. Wiedemann HR. Missbildungs-RetardierungsSyndrom mit Fehlen des 5. Strahls an Händen
und Füssen, Gaumenspalte, dysplastischen Ohren
und Augenlidern und radioulnarer Synostose
[Malformation retardation syndrome with absence
of 5th ray on hands and feet, cleft palate, dysplastic
ears and eyelids, and radioactive synostosis]. Klin
Padiatr. 1973;185(3):181–6.
62. Opitz JM, Stickler GB.The Genée-Wiedemann syndrome, an acrofacial dysostosis—further observation. Am J Med Genet. 1987;27(4):971–5.
63. Roach JC, Glusman G, Smit AF, Huff CD, Hubley
R, Shannon PT, Rowen L, Pant KP, Goodman N,
Bamshad M, Shendure J, Drmanac R, Jorde LB,
Hood L, Galas DJ.Analysis of genetic inheritance
in a family quartet by whole-genome sequencing.
Science. 2010;328(5978):636–9.
64. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor
HK, Dent KM, Huff CD, Shannon PT, Jabs EW,
Nickerson DA, Shendure J, Bamshad MJ. Exome
sequencing identies the cause of a Mendelian disorder. Nat Genet. 2010;42(1):30–5.
65. Trainor P.Molecular blueprint for craniofacial morphogenesis and development. In: GTJ H, Thesleff I,
editors. Stem cells in craniofacial development and
regeneration. Hoboken: Wiley; 2013. p.3–29.
66. Casale J, Giwa AO. Embryology, branchial arches.
Treasure Island (FL): StatPearls Publishing; 2020.
67. Fazen LE, Elmore J, Nadler HL.Mandibulo-facial
dysostosis (Treacher-Collins syndrome). Am J Dis
Child. 1967;113:405–10.
68. Phelps PD, Poswillo D, Lloyd GA.The ear deformities in mandibulofacial dysostosis (TreacherCollins syndrome). Clin Otolaryngol Allied Sci.
1981;6:15–28.
69. Rovin S, Dachi SF, Borenstein DB, Cotter
WB.Mandibulofacial dysostosis, a familial study of
ve generations. J Pediatr. 1964;65:215–21.
70. Group TTCSC.Positional cloning of a gene involved
in the pathogenesis of Treacher Collins syndrome.
Nat Genet. 1996;12:130–6.
71. Dixon MJ, Marres HA, Edwards SJ, Dixon J,
Cremers CW. Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
Clin Dysmorphol. 1994;3:96–103.
72. Marres HA, Cremers CW, Dixon MJ, Huygen PL,
Joosten FB. The Treacher Collins syndrome. A
clinical, radiological, and genetic linkage study on
two pedigrees. Arch Otolaryngol Head Neck Surg.
1995;121:509–14.
73. Wise CA, et al. TCOF1 gene encodes a putative
nucleolar phosphoprotein that exhibits mutations in
Treacher Collins Syndrome throughout its coding
region. Proc Natl Acad Sci U S A. 1997;94:3110–5.
74. Miller M, Fineman R, Smith DW.Postaxial acrofacial
dysostosis syndrome. J Pediatr. 1979;95(6):970–5.
75. Admiraal RJ, Szymko YM, Grifth AJ, Brunner
HG, Huygen PL. Hearing impairment in Stickler
syndrome. Adv Otorhinolaryngol. 2002;61:216–23.
76. Nowak CB. Genetics and hearing loss: a review
of Stickler syndrome. J Commun Disord.
1998;31(5):437–53.
77. Daily DK, Ardinger HH, Holmes GE.Identication
and evaluation of mental retardation. Am Fam
Physician. 2000;61(4):1059–67.
78. Swillen A, Vogels A, Devriendt K, Fryns
JP. Chromosome 22q11 deletion syndrome: update
and review of the clinical features, cognitivebehavioral spectrum, and psychiatric complications.
Am J Med Genet. 2000;97(2):128–35.
79. GARD. 22q11.2 deletion syndrome. Gaithersburg:
Genetic and Rare Diseases Information Center
(GARD); 2017.
80. Genetics Home Reference. 22q11.2 deletion syndrome. 2013.
81. Fung WL, Butcher NJ, Costain G, Andrade DM,
Boot E, Chow EW, et al. Practical guidelines for
managing adults with 22q11.2 deletion syndrome.
Genet Med. 2015;17(8):599–609.
82. Oskarsdóttir S, Vujic M, Fasth A. Incidence and
prevalence of the 22q11 deletion syndrome: a
population- based study in Western Sweden. Arch
Dis Child. 2004;89(2):148–51.
Соседние файлы в папке Библиотека им академика М.И. Перельмана