Common Congenital Hand Anomalies Flashcards
1
Q
Congenital hand anomalies can be classified into seven
categories based on the type of embryologic failure
A
T
2
Q
Ulnar polydactyly is common in African Americans and
is frequently treated with an in-office ligation procedure
A
T
3
Q
Patients with camptodactyly or clinodactyly frequently
present with mild deformities and functional deficits
A
F no functional deficits
4
Q
If severe enough, constriction ring syndrome can lead to
critical lymphedema or compartment syndrome, requiring
emergent release of the constricting bands
A
T
5
Q
Pollicization is the preferred treatment for thumb hypoplasia that lacks a stable carpometacarpal joint
A
T
6
Q
Most common type of hand anomaly
A
Syndactyly, polydactyly, and camptodactylyarethe most frequently encountered disorders
7
Q
The most common cause of congenital hand anomaly is inheritance
A
F 60% of cases occur spontaneously, 20% are inherited, and 20% are secondary to an environmental cause
8
Q
inheritance patterns
may be either autosomal dominant or recessive only
A
F congenital hand anomalies also present as part of a sequence or an association.
9
Q
Example of association
A
VACTERL association (vertebral abnormalities, anal atresia, cardiac defects, tracheoesophageal fistula, renal agenesis, limb anomalies) seen in patients with radial dysplasia
10
Q
The cortical control for placing the limb in space and for strong grasping is developed by 2 year
A
F The cortical control
for placing the limb in space and for strong grasping is developed by 1 year
11
Q
Prehensile grasp and pinch between the thumb and fingers
continue to become refined up to 3 years of age
A
T
12
Q
The major goals of surgery
A
orient the hand in space and
provide adequate prehension
13
Q
Upper extremity development takes place between the2-4 weeks of intrauterine growth
A
F Upper extremity development takes place between the fifth and eighth weeks of intrauterine growth
14
Q
arm bud at approximately 30 days gestation, and by 3 7 days
gestation the hand plate is well developed
A
T
15
Q
Proximodistal limb growth is controlled by a thickened ridge of
ectodermal tissue known as the apical ectodermal ridge (AER)
A
T the last axis to develop
16
Q
The delineation of digital rays and finger separation
occurs through apoptosis of specific portions of the AER at wich time in intrautrine life?
A
between 4 7
and 53 days
17
Q
defect in the apical ectodermal ridge can lead to polydactyly or
syndactyly
A
T
18
Q
The zone of polarizing activity (ZPA) is responsible for dorso ventral growth
A
F The zone of polarizing activity (ZPA) is responsible for anteroposterior or radio/ulnar growth
19
Q
It is the first axis to be established with its
orientation predetermined before the start of limb bud growth
A
T
20
Q
Alterations in the ZPA can lead to the development of syndactyly
A
F Alterations in the ZPA can lead to the development of a mirror
hand
21
Q
ulnar dimelia
A
Experimental transplantation of the ZPA to the radial side of
a developing limb will result in mirror duplication of the ulnar hand,
or ulnar dimelia
22
Q
the dorsal ectoderm controls the dorsal/
volar characteristics of the limb and is driven by the expression of wingless-type mouse mammary tumor virus
A
T
23
Q
Disturbances of this axis of development may
lead to palmar duplication syndrome
A
T
24
Q
SYNDACTYLY is occurs failure of differentiation during
embryogenesis with an incidence of 1 in every 2000 to 3000 births
A
T
25
Most cases of syndactyly are genetics
most cases are isolated occurrences, 10% to 40% of cases are familial, inherited in an autosomal dominant pattern with variable expressivity
26
The majority of inherited cases associated with distinct syndromic anomalies or sequences,
such as Apert syndrome or Poland sequence
T
27
Syndactyly may be classified in to >>>>
complete incomplete
simple complex
complicated
28
Complicated syndactyly is often seen in association with other
conditions or syndromes such as polydactyly, constriction rings, toe webbing, brachydactyly, spinal deformities, heart disorders, or Apert Syndrome
T
29
In cases of complete syndactyly, patients have a shared fingernail between the digits what is called
known as synonychia
30
The most common
webspace affected in nonsyndromic syndactyly?
middle/ring
finger webspace (57% of cases) followed by the ring/little finger webspace (27% of cases)
31
In syndromic cases, the thumb/index finger
and index/middle finger webspaces are more commonly involved
T
32
the release is
timed so that it is done early enough to permit normal growth but late
enough to avoid postoperative complications.
T
33
Surgery before 1 year of
age is associated withhigher ratesof scar contracture and potential anesthetic complications.
T
34
Syndactyly of the border digits
asymmetric growth, flexion contractures, and rotation
deformities
35
Syndactyly of the border digits should undergo surgery in 6-12 month of age
F between 3 and 6 months of age
around 6 months when the infant is bigger and the anesthetic risk is minimal
36
Withbilateral involvement, both hands should becorrectedsimultaneously in nonambulatory patients younger than 12 to 14 months.
T
37
Sequential surgery can be performed
within 6 months of each other
F Sequential surgery can be performed
within 3 months of each other
38
It is ideal to complete the reconstruction before 24 months of age when the patterns of the function of the
digits are established.
T
39
The webspace has a dorsal to volar inclination of 40 to
45 degrees and it is reconstructed with a dorsal skin flap.
T
40
release
often results in a skin deficit requiring skin grafting Why?
circumference of the separated fingers is approximately 22% to
30% greater than the circumference of the conjoined digits
41
Full-thickness skin grafts are preferable to minimize contracture but should be avoided in the web spaces and overlying PIP joints
T
42
Skin grafts from the
wrist or the forearm
F Skin grafts should be taken from the groin and not from the
wrist or the forearm because these are exposed areas and the scars are aesthetically objectionable
43
A dorsal rectangular or trapezoidal flap is designed approximately two-thirds the distance between the metacarpal heads and the PIP joints.
T
44
Transposition of pulp flaps described by Buck-Gramcko
is elevated to create the paronychial folds
T
45
When skin grafts are used, compression and immobilization are the rule.
T
46
In young children, the dressing is reinforced with an above-theelbow cast with the elbow flexed at 90 degrees
T
47
The cast is typically removed at 2 to
3 weeks and light dressings can be applied until all wounds are fully closed
T
48
Potential complications
graft loss or web creep (distal
migration of the webspace)
49
prevention of web space creep
Overcompensation of the
webspace by positioning it more proximally
50
How you can minimize or avoid the need for a skin graft
recruiting excess dorsal tissue with the design of
a dorsal pentagonal flap. This requires more proximal dorsal hand incisions leading to a more conspicuous scar.9* 16 Defatting of the digits prior to flap closure
51
Younger patients (3-6 months) have the most digital fat amenable to defatting
T
52
Causes of apert syndrom
disturbance of the cell surface receptor for fibroblastic growth factor
53
Apert syndrome represents the severe end of the syndactyly spectrum with involvement of bones, joints, tendons, and nerves
T
54
Type of syndactyly in Apert syndrom
55
Type of syndactyly in Apert syndrom
type 1 obstetrician's or spade hand, is characterized by a narrow first webspace and
syndactyly of the four fingers without thumb involvement. This is the most common and least severe form.
type2 mitten or spoon hand, have syndactyly of all four
fingers with a simple syndactyly ofthe thumb to the index ray.
type 3 as rosebud or hoof hand,
have a tight osseous or cartilaginous fusion of the thumb, index, long, and ring fingers with conjoined nail plates. The little finger is often spared from an osseous union but is still joined to the other digits by a complete simple syndactyly.
56
Separation of the digits The staging principle is to separate the thumb and little finger bilaterally in the first stage
T typically around the age of
one when the child starts to use the thumb to provide a tripod pinch
57
Because of skin shortage, it is not necessary for reasonable function to create a five-digit hand in apart syndrom
T
58
Symbrachydactyly is caused by a disruption in the embryonic formation only
F Symbrachydactyly is caused by a disruption in embryonic formation and differentiation resulting in a hand with shortened or webbed digits, digital nubbins, or absent digits
59
is more common in males, and is affecting the right extremity in two-thirds of cases
F is more common in males, and is often unilateral, affecting the left extremity in two-thirds of cases
60
When associated with
Poland syndrome, it more commonly involves the right extremity
T
61
distinguish symbrachydactyly from amniotic band syndrome
. Hands with symbrachydactyly often have small nubbins with
fingernails, whereas with constriction bands the short digits occur as a result of intrauterine amputation and will lack nails.
patients with amniotic band syndrome will not only have a visible band on the hand but also on other locations of the body
62
The goal of reconstruction should be to improve pinch, grip, and single hand function.
T
63
Surgical intervention is not always entirely straightforward
T
64
Polydactyly, can be (preaxial) with duplication of the thumb, the ulnar hand (postaxial), or the central hand with the involvement of the three central rays
T
65
All thumb poly dactyls are autosomal dominant
F patients who present with a triphalangeal thumb exhibit an autosomal dominant inheritance pattern
66
Thumb duplication is classified using the Flatt classification system, which sequentially describes the duplication from distal to proximal
T
67
type IV (most common) describes duplication at the level
of the MCP joint
T
68
type VII involves a triphalangeal thumb
T
69
Surgery for preaxial polydactyly is generally performed between
9 and 15 months of age,WHY?
prior to the development of pinch grasp
or progressive deviation of the duplicated thumbs
70
none of the anatomic components of either duplicates is normal
T
71
Although both the ulnar and radial thumb demonstrate a degree of hypoplasia, the ulnar thumb is usually larger
T
72
The ulnar duplicate is preferentially
preserved, not only because ofits larger size, but also to preserve the
native ulnar collateral ligament, which is essential to providing stability during thumb to index pinch
T
73
flexor and extensor tendons may be split with
eccentric origins
F flexor and extensor tendons may be split with
eccentric insertions
74
or may demonstrate fusion on the radial side of
the thumb known as a po/lex abductus deformity
T
75
Postaxial polydactyly small skin nubbin on the
ulnar aspect of the hand or as a fully formed digit
T
76
This is the most common type of polydactyly and is frequently found in African Americans with an incidence of 1 in 143 African American births compared to 1 in 1339 Caucasian births
T
77
The inherited pattern in postaxial polydactyly
In African Americans,
it has an autosomal dominant inheritance pattern with incomplete penetrance
78
in Caucasians it is more frequently associated
with a syndrome and should prompt a genetics consultation.
T
79
Classification of Postaxial polydactyly
type A describes a fully developed duplicate digit that articulates with the fifth or, at times, the sixth metacarpal.
type B represents a rudimentary poorly developed ulnar duplication with a thin, narrow stalk
80
Type B deformities better treated with suture ligation
F do not
advocate suture ligation because it will leave a stump that eventually requires excision
81
A vascular clip can be placed at the base of
the digit to leave no residual nubbin. This occludes the neurovascular
supply to the duplicated digit leading to dry gangrene and autoamputation
T
82
type A deformities Management
require surgical reconstruction with consideration given to maintaining a stable, functional small finger with preservation of the ulnar
collateral ligament and the adductor digiti minimi
83
Camptodactyly is a nontraumatic irreducible flex.ion contracture of
the proximal interphalangeal join
T
84
Most common fingers involved
most commonly involving the
ring or small fingers
85
Type of camptodactyly
The simple type only has a flex.ion deformity of the PIP joint, the complex type may have other associated deformities such as syndactyly or clinodactyly
86
MCP and DIJ can also invovled
F Although hyperextension of the DIP or MCP joints may
occur in camptodactyly, flex.ion contracture of these joints would instead suggest a post-traumatic cause.
87
Percentage of Camptodactyly
Camptodactyly occurs in less than 1 % of the population
88
What is the bimodal pattern in camptodactyly
during the periods of most rapid
growth: infancy and puberty
89
Most common occurs in male
F The early type is often present at
birth, involves the little finger, and affects boys and girls equally. The delayed type, which is more common, presents during adolescence, and affects girls more often than boys
90
Most cases are inherited
F most cases occur sporadically, camptodactyly can be transmitted in an autosomal dominant fashion, or can be associated with Trisomy 13, oculodentodigital, orofacial digital, Aarskog, and cerebrohepatorenal syndromes
91
The etiology of camptodactyly
An inability of palmar tissues to grow and lengthen
in proportion to skeletal growth causes abnormalities in the skin, soft tissue, or pericapsular tissue resulting in tethering of the finger
anomalous or absent flexor digitorum superficialis or an anomalous lumbrical muscle
extensor mechanism laxity
anomalies of the interosseous muscles or the transverse or oblique retinacular ligaments
92
Patients may present with a loss of function that interferes with
activities ofdaily living
T
93
with mild camptodactyly (<30 degrees)
have minimal impediment of hand function and can tolerate it quite
well
T
94
How you can differentiate between an intrinsic joint problem and extrinsic flexor tendon involvement
If the contracture improves with an MCP joint flex.ion, the tethering effect is most likely related to an extrinsic flexor tendon (i.e., flexor digitorum superficialis)
95
More advanced cases may also present with an extensor
lag from central slip laxity or a boutonniere deformity
T
96
Camptodactyly mostly treated with surgical intervention only
F Camptodactyly can often be treated effectively with nonoperative management
97
Option of nonoperative management
PIP joint stretching exercises have been successful to improve contractures particularly in patients less than 3 years old.
Dynamic and static support splints as well as serial finger casting can be employed with gradual adjustments made as the finger contracture improves
98
when we can consider the surgical intervention
in patients with flexion contractures of 30 degrees or greater, impaired function,
unacceptable aesthetics,
the deformity persists or progresses despite a 6 to a 12-month trial of nonoperative therapy
99
the risk associated with surgical release,
neurovascular injury from overaggressive extension ofthe contracted digit, joint instability from overzealous release of the stabilizing joint structures
100
Surgical steps ?
( 1) the release of skin pterygium with local transposition flaps or Z-plasties or full thickness skin grafts;
(2) release of the fascia and subcutaneous tissues;
(3) tenotomy of the flexor digitorum superficialis tendon at the level of the Camper chiasm
(4) a sliding volar plate release may also be necessary
(5)In patients with a severe PIP joint extensor lag, an intrinsic transfer using the released FDS tendon can be performed
(6)Fowler distal extensor tenotomy may be needed to treat a hyperextended DIP joint
101
surgical intervention improves the degree of contracture, the amount of improvement is typically modest and prone to
recurrence
T
102
Clinodactyly is a congenital radio-ulnar deviation of the fingers
T
103
Although all bones and all rays of the hand may be affected, bilateral small finger involvement with radial deviation of the middle phalanges is most common
T
104
Clinodactyly is present as autosomal dominant only?
It occurs either sporadically or is inherited in an autosomal dominant pattern with variable
expressivity and incomplete penetrance
105
Clinodactyly can be found
with other conditions of the hand and foot including like what?
polydactyly, cleft hand or foot, and mild tibial hemimelia
106
longitudinal growth is unilaterally
restricted, leading to a progressive deviation of the digit toward the bracketed epiphysis
T
107
The etiology of clinodactyly
result from the incomplete development of
primary ossification centers
108
Primary complaints with clinodactyly are either aesthetic or fi.mctional
T
109
Patients often have an abnormal trapezoidal or triangular shaped middle phalanx referred to as a delta phalanx
T
110
In clinodactyly the problem with the bone only ?
F longitudinally bracketed epiphysis. This C-shaped epiphysis is characterized by an irregularly shaped physis, or growth plate, that spans the axial length of the phalanx
111
Treatment for clinodactyly is typically considered when there is more than
10 degrees of deviation
F more than
20 degrees of deviation
112
The surgical option for clinodactyly
Physiolysis
Osteotomy
113
physiolysis meaning
In a physiolysis the bracketed
the epiphysis is resected and tissue such as a fat graft is interposed to prevent recurrence
114
Physiolysis correct the deformity immediately after surgery
This method does not immediately repair the
deformity, but as the child grows, there is an increase in longitudinal growth and a decrease in angular deformity
115
This method is preferred
in younger patients why?
where an osteotomy of small bones may be technically more challenging and there is a longer propensity for growth
and correction of the deformity
116
A corrective osteotomy is an alternative for patients who
are older and have bone fragments that are large enough to permit accurate surgical manipulation
T
117
osteotomy options
closing wedge, opening wedge, and a reverse wedge osteotomy,
118
Closing wedge osteotomy is preferred
F the opening wedge osteotomy is preferred to maintain the
finger length
119
Trigger thumb, also historically called congenital trigger thumb,
has an estimated incidence of 3.3 children per 1000 live births by the first year of life.
T
120
The term trigger is a misnomer why?
because it is uncommon to see snapping as in adult trigger finger. Instead, children typically present with a fixed flexion contracture of the IP joint averaging 25 to 35 degrees with inability or difficulty with active or passive
thumb extension
121
The average age of
presentation is approximately 12 months
F The average age of
presentation is approximately 24 months
122
It is thought to occur
as a result of an enlarged flexor pollicis longus tendon proximal to a tight Al pulley, leading to an area of thickening or a palpable Notta nodule
T
123
Treatment of congenital trigger thump
Initial treatment involves a period of observation to assess for
spontaneous resolution of symptoms
124
75% had symptomatic improvement without residual
deformity or compensatory hyperextension of the MCP joint after 5 years
T
125
Splinting has not been shown to be of any consistent benefit
T
126
Candidates for surgery are those who fail to improve
despite a period of observation
T
127
exact timing at 24 month
F exact timing of which is
often surgeon dependent
128
Treatment is performed with a surgical
release of the Al pulley through an incision over the proximal
flexion crease.
T
129
congenital clasped thumb deformity
presents with contracture at the PIP joint
F congenital clasped thumb deformity
presents with contracture at the MCP joint
130
Clasped thumb subtypes
The clasped thumb can be
divided into two subtypes: supple and complex
131
In the supple subtype, the extensor mechanism is hypoplastic or absent, and the contracture can be corrected with passive extension
T
132
Treatment of simply clasped thump
Initial treatment involves a trial of splinting but may ultimately require tendon transfer if splinting fails
133
Patients with the complex subtype frequently have.......
bilateral involvement
joint or first webspace contractures
abnormalities of the collateral ligaments and thenar musculature
134
This results in uncorrectable MCP
flexion and thumb adduction contractures
T
135
Surgical treatment of complex subtype
reconstruction of the lax ligaments
Z-plasties for first web contractures
thenar and adductor muscle releases
flap coverage of the volar skin deficit
flexor pollicis longmus tendon lengthening
136
constriction band syndrome, is a condition that results in
distal limb malformation or deformation, lymphedema, acrosyndactyly, or amputation
T
137
The incidence has been
described to range from 1/1200 to 1/15,000 live births
T
138
pattern of inheritance
No known autosomal inheritance pattern or genetic predilection.
139
Factors that have been found to be associated with constriction
ring syndrome
prematurity (<37 weeks),
low birth weight (<2500 g),
maternal drug exposure,
maternal illness or trauma during pregnancy
140
acro syndactyly meaning
In cases of acro syndactyly, digits that were at one point
separated undergo refusion at the site of the band, resulting in an epidermal lined sinus tract that communicates from the dorsal side to the volar side
141
The cause of constriction ring syndrome
The intrinsic theory
The extrinsic theory
142
The intrinsic theory
proposes that a teratogenic insult, viral infection, or vascular disruption results in an inherent defect during embryogenesis affecting mesodermal tissue, leading to the characteristic rings.
143
The extrinsic theory
Suggests that an external band
entangles, constricts, or amputates the limbs
144
Torpin theorized
that early amniotic rupture followed by a period of oligohydramnios with torn cords of amnion results in extrinsic compression of
the fetal appendages and the characteristic deformities
T
145
extrinsic theory to be more accurate
T
146
Factors that support the extrinsic theory
citing that the asymmetric clinical presentation of the limbs
presence of a straight line across adjacent digits
occurrence of acro syndactyly
(refusion of previously separated digits) are better explained in an
extrinsic cause
147
The goal of surgical treatment is to optimize function and
appearance
T
148
Shallow bands may require no operative treatment other than for aesthetic purposes
T
149
more
severe constriction bands that result in severe distal lymphedema,
cyanosis, or circulatory compromise may lead to ischemia or compartment syndrome and should be treated urgently after birth
T
150
treatment involves one or two stage releases
beginning at around 3 months of age
T
151
50% of the band is released at the first stage, followed by an interval
of 6 to 12 weeks
T
152
separate advancement of subcutaneous adipose flaps to add bulk to the
area underlying the constriction band
T
153
Radial longitudinal deficiency (RLD), or radial club hand, is a
result of a congenital failure of formation of the radial column
T
154
The
severity of presentation can vary from mild hypoplasia to complete
absence of the radius, carpal bones, and radial digits
T
155
The radial
musculotendinous units may be absent or hypoplastic and often form
a fibrous tether at the wrist
T
156
RLD occurs because of an insult to the zone of polarization during
the fourth to seventh weeks of intrauterine development
F RLD occurs because of an insult to the apical ectodermal ridge during
the fourth to seventh weeks of intrauterine development
157
Gained widespread attention in the 1960s with the thalidomide
induced epidemic of phocomelia
T
158
two-thirdsofpatientshave anassociatedmedical or musculoskeletal anomaly ranging from congenital heart malformations,
blood dyscrasias, and renal or gastrointestinal dysfunction
T
159
Often the limb abnormality may be the only outward manifestation of the underlying syndrome
T
160
The Bayne and Klug classification
Type I: short distal radius,
Type II: hypoplastic radius,
Type III: partial absence of the radius, and
Type IV: total absence of the radius.
161
This classification system was further modified by James to
include .....
the presence of thumb hypoplasia, carpal anomalies, and
radioulnar synostosis
162
Treatment
Treatment for radial longitudinal deficiency initially involves passive stretching and serial splinting. In severe cases, some advocate
distraction of the tight radial tissues with an external fixator device
for at least 6-8 weeks before surgical reconstruction
163
The goals of surgical treatment
■ straightening of the radial bowing of the forearm,
■ correction of radial and volar subluxation of the carpus,
■ improvement of the limb length to optimize function,
■ improvement of aesthetic appearance, and
■ treatment of the thumb hypoplasia.
164
The deformity is corrected by centralizing the carpal bones over
the ulna and rebalancing the musculotendinous structures
T
165
it has been shown to result in recurrence of angulation and in limb shortening.
T
166
Some cases of radial longitudinal deficiencyhave an associated thumb
hypoplasia,
F All casesofradial longitudinal deficiencyhave an associated thumb
hypoplasia,
167
thumb hypoplasia may exist without an abnormality of the radius.
T
168
Blauth developed a classification for thumb hypoplasia based on the size of the thumb, the thenar musculature, first
webspace contracture, and stability of the carpometacarpal joint
T
169
Blauth classification
Type I: minor thumb hypoplasia,
Type II: first webspace narrowing, hypoplastic or absent thenar
intrinsic muscles, MCP joint instability,
Type III: first webspace narrowing, hypoplastic or absent thenar intrinsic muscles, MCP joint instability, extrinsic tendon
abnormalities, skeletal abnormalities:
Type IIIA: hypoplastic metacarpal, stable CMCjoint and
Type IIIB: partial metacarpal aplasia, unstable CMCjoint,
Type IV: floating thumb (poucejlottant), and
Type V: absent thumb
170
In milder cases (Blauth types II and IIIA), reconstruction is focused
on widening of the first webspace, an opponensplasty procedure and metacarpophalangeal joint stabilization
T
171
in more severe
cases that lack a stable CMC joint (Blauth types IIIB, IV, or V), the
thumb, if present, cannot be effectively reconstructed
T
172
So what is the suitable option ?
Treatment is
best performed with thumb ablation and reconstruction with index
finger pollicization, transferring the index finger to the thumb position
173
Pollicization provides.....
a pleasing aesthetic reconstruction of
the thumb and successfully restores opposition and grasp functions
174
Cleft hand or central longitudinal deficiency is characterized by varying degrees of growth suppression of the bones and soft tissue of the
central hand, most frequently involving the central rays
T
175
The defect
may extend proximal to the wrist
F The defect
does not extend proximal to the wrist but may have associated carpal
coalition or radioulnar synostosis.
176
the cleft itself causes
little functional limitation,
T
177
the main deficit is secondary to a narrowed
thumb-index webspace
T
178
classification schemes Depend on the cleft size in the missle of the hand
useful one that can help guide surgical treatment is that
proposed by Manske and Halikis that characterizes the degree of first
webspace narrowing
179
Improve functional limitations of the hand That include >>>
a severe flexion contracture
ofone or more digits, a malpositioned index finger ray, or syndactyly
involving the thumb.
180
Because deformities may worsen with growth,
patients are treated by 1 year ofage with completion ofany additional
reconstructions by school age (5-6 years)
T
181
Surgical repair involves
(I) preservation of a stable and mobile thumb;
(2) transposition of the index ray to the ulnar side of the cleft;
(3) creation of a wide and functional first webspace;
(4) correction ofany index finger malrotation or deviation;
(5) preservation ofan adductor pollicis muscle;
(6) creation ofa satisfactory aesthetic appearance
182
Approximately one-third of patients of RLD have an associated syndrome
such as Holt-Oram, Fanconi anemia, TAR (thrombocytopenia-absent
radius), or VACTERL (vertebral abnormalities, anal atresia, cardiac
defects, tracheoesophageal fistula, renal agenesis, limb anomalies)
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