Professional Documents
Culture Documents
Anomalias Congenitas Asociadas A LPH 2010 PDF
Anomalias Congenitas Asociadas A LPH 2010 PDF
KEY WORDS: cleft lip, cleft palate, congenital anomalies, congenital malforma-
tions, submucous cleft
Cleft lip and/or cleft palate (CL/P) is a common birth Pashayan, 1983; Shprintzen et al., 1985; Lilius, 1992;
defect and often occurs in isolation with a prevalence of Kallen et al., 1996; Hagberb et al., 1997; Milerad et al.,
approximately 9.1 per 10,000, varying with the specific type 1997; Christensen, 1999; Yi et al., 1999; Rajabian and
of cleft, geographic location, ethnic group, and socioeco- Sherkat, 2000; Stoll et al., 2000; Natsume et al., 2001; Shafi
nomic conditions (Calzolari et al., 2007). Though its et al., 2003; Al Omari and Al Omari, 2004; Sarkozi et al.,
association with other malformations has been long 2005; Wyszynski et al., 2006; Calzolari et al., 2007; Rittler
recognized, with a reported frequency between 3% and et al., 2007; Alijohar et al., 2008; Rawashdeh and Abu-
63%, these variations are often considered a reflection of Hawas, 2008; Beriaghi et al., 2009).
the peculiarities of data collection (Åbyholm, 1978a, 1978b; Establishing an accurate relationship between CL/P and
other malformations is important for several reasons. It can
improve screening, evaluation, and, therefore, appropriate
treatment of these conditions in departments dealing
Dr. Sekhon is postgraduate student, SDM College of Dental Sciences with CL/P due to increased vigilance on the part of the
and Hospital, Dharwad, India. Dr. Ethunandan is Consultant, Oral and providers. In addition, corroboration of CL/P with asso-
Maxillofacial Surgery, St. Richard’s Hospital, Chichester, United ciated congenital anomalies may lead to a greater under-
Kingdom. Dr. Markus is Consultant, Oral and Maxillofacial Surgery,
Poole General Hospital, Poole, United Kingdom. Dr. Krishnan and
standing of the embryonic phenomena underlying the
Dr. Rao are Professors, Oral and Maxillofacial Surgery, SDM College of malformation process.
Dental Sciences and Hospital, Dharwad, India. Most reports in the literature emanate from Europe and
Submitted January 2010; Accepted June 2010. North America, with a great paucity of information from
Address correspondence to: Dr. M. Ethunandan (Dr. A.F. Markus), Asia (Yi et al., 1999; Rajabian and Sherkat, 2000; Natsume
Department of Oral and Maxillofacial Surgery, Poole General Hospital,
Longfleet Road, Poole, Dorset, BH15 2JB, United Kingdom. E-mail
et al., 2001; Shafi et al., 2003; Alijohar et al., 2008;
mgethu@hotmail.com. Rawashdeh and Abu-Hawas, 2008) and specifically the
DOI: 10.1597/09-264 Indian subcontinent. Recent studies suggest that between
371
372 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4
27,000 and 33,000 infants are born with CL/P every year in RESULTS
India (Mossey and Little, 2009), but there is no reliable
information about the frequency of associated anomalies in A total of 1623 CL/P patients were managed during the
this population. Furthermore, it is currently unknown if study period. There were 1035 (64%) males and 588 (36%)
there are any similarities in the type and frequency of females, with a male to female ratio of 1.8:1.
anomalies in the Asian population. The demographic details and frequency of the various
The aim of this study was to report the frequency of clefts are highlighted in Table 1. Unilateral cleft lip with
associated anomalies in a large group of consecutive CL/P cleft palate (669 patients, 41%) was the most frequent
patients treated in a craniofacial unit in India, paying subtype, followed by cleft lip with or without a cleft
particular attention to the specific types of anomalies and alveolus (533 patients, 33%). Submucous cleft palate (15
syndromes and their frequency in the various cleft patients, 1%) was the least frequent cleft type.
subtypes. There were 240 (14.8%) patients with associated malfor-
mations, which were more frequent in males (139 patients,
MATERIALS AND METHODS 58%; M:F 5 1.4:1). Associated anomalies were most
frequent in the unilateral cleft lip with palate group (89
We undertook a retrospective analysis of a prospectively patients, 37%), followed by isolated cleft palate (54
collected database of all CL/P patients managed in the patients, 23%); they were least common in the submucous
Craniofacial Surgery and Research Centre at the SDM cleft group (eight patients, 3%) (Table 1).
College of Dental Sciences and Hospital, Dharwad, India, The total number of malformations in this group was
during a 40-month period between August 2001 and 434, with a single anomaly present in 79 patients, two
December 2004. Many of these patients were managed in anomalies in 105 patients, and three or more anomalies in
the unit under the auspices of the Smile Train project. 56 patients. Anomalies per patient were most frequent in
Local ethics committee approval was obtained for the the submucous cleft group (mean, 0.53), followed by the
study. bilateral cleft lip and palate group (mean, 0.51); patients
A total of 1623 patients were treated during the 40- who had cleft lip with or without cleft alveolus had the least
month period and form the basis of the study. Data number of anomalies (mean, 0.14) (Table 2).
collected included the sex of the patient, type of cleft, and The different organ systems affected by associated
presence of associated anomalies and syndromes. All anomalies are outlined in Tables 3 through 12, in relation
patients with craniofacial anomalies without CL/P were to the cleft subtype. Anomalies were most frequent in the
excluded, as were patients with recognized chromosomal facial region (93 patients, 21%), followed by the ocular (75
abnormalities. Dental malformations were not included in patients, 17%), central nervous (65 patients, 15%), and
the evaluation data set. gastrointestinal (12 patients, 3%) systems. Anomalies were
A simple descriptive classification was used to record the least common in the urogenital system (nine patients, 2%)
cleft type, and the CL/P patients were divided into cleft lip (Tables 2 through 12).
with or without cleft alveolus, unilateral and bilateral cleft Thirty-four patients were found to have 14 different
lip with cleft palate, isolated cleft palate, and submucous recognized nonchromosomal syndromes and accounted for
cleft palate. 2% of all patients (Table 13). Of these, 21 were in the cleft
The associated malformations were classified according palate group, and 13 were in the cleft lip with or without
to the principal organ system and/or area affected (facial, cleft palate group.
ocular, central nervous system, cardiovascular, auricular,
upper and lower extremity, urogenital, gastrointestinal, and DISCUSSION
miscellaneous). The frequency of nonchromosomal syn-
dromes was documented also. A multiple malformation The frequency and type of associated anomalies in a
was deemed to be present if more than two organ systems patient with a CL/P can have significant implications for
were affected. the management of the particular individual and the care
The diagnosis of learning difficulties was based on the provided for the whole group. The reported incidence of
clinical impressions and expert opinions of the pediatri- associated anomalies in the literature varies from 1.5% to
cians, anesthetists, psychologists, and speech therapists on 63% (Åbyholm, 1978a, 1978b; Pashayan, 1983; Shprintzen
the team, and with older children, their parents assisted as et al., 1985; Lilius, 1992; Kallen et al., 1996; Hagberb et al.,
well. 1997; Milerad et al., 1997; Christensen, 1999; Yi et al.,
The evaluation of associated malformations was based 1999; Rajabian and Sherkat, 2000; Stoll et al., 2000;
on a thorough history and physical examination, hemato- Natsume et al., 2001; Shafi et al., 2003; Al Omari and Al
logical investigation, evaluation of chest x-ray by a Omari, 2004; Calzolari et al., 2007; Alijohar et al., 2008;
radiologist in addition to two-dimensional echocardio- Rawashdeh and Abu-Hawas 2008). In the present study the
gram, computed tomography, and/or MRI scans, as frequency of associated anomalies was 14.8% and is
indicated by preliminary evaluation. comparable with the 11.5%, 18%, and 14.3% reported by
Sekhon et al., CONGENITAL ANOMALIES WITH CLEFT LIP/PALATE 373
No. (%) With Clefts (N 51623) No. (%) With Associated Anomalies (N 5 240)
Åbyholm (1978a, 1978b), Al Omari and Al Omari (2004), anomaly. A multicenter study can mitigate some of the
and Rawashdeh and Abu-Hawas (2008), respectively, but shortcomings but is also prone to bias, and a population-
less than the 63.4%, 22.3%, 21%, 36.7%, 29%, 29.2%, and based prevalence study with appropriate support remains
29.5% reported by Shprintzen et al. (1985), Hagberg et al. the criterion standard.
(1997), Milerad et al. (1997), Stoll et al. (2000), Shafi et al. Our study confirms a tendency toward overall male
(2003), Calzolari et al. (2007), and Alijohar et al. (2008), predominance (M:F 5 1.8:1), in addition to a male
respectively. predominance in the CL/P group (2.1:1) and a female
When our results (14.8%) were compared with studies predominance in the cleft palate–only group (M:F 5 1:1.9).
from Asia, the frequency of associated anomalies was This is similar to previous reports in the literature (Lilius,
similar to the 18% and 14.3% reported by Al Omari and Al 1992; Hagberg et al., 1997; Al Omari and Al Omari, 2004;
Omari (2004) and Rawashdeh and Abu-Hawas (2008), Calzolari et al., 2007; Alijohar et al., 2008; Rawashdeh and
respectively, but less than the 20% and 20.5% in reports by Abu-Hawas, 2008). Associated anomalies were more
Shafi et al. (2003) and Alijohar et al. (2008), respectively, frequent in males (M:F 5 1.4:1) in our study, and the
and more than the 1.5% and 7.7% reported by Yi et al. ratio differs from the 1:1, 1:1.1, 0.9:1, and 1:1.3 reported by
(1999) and Rajabian and Sherkat (2000), respectively. Lilius (1992), Hagberg et al. (1997), Shafi et al. (2003), and
There does not seem to be any obvious similarities in the Rawashdeh and Abu-Hawas (2008), respectively.
frequency of associated anomalies among the studies from A total of 434 anomalies were detected in 240 patients in
Asia. our study, a mean 1.8 anomalies per proband, similar to the
It has long been recognized that methodological factors frequencies reported by Åbyholm (1978a, 1978b; 260
could account for the variations in the reported frequency anomalies in 178 patients; mean, 1.5) and Lilius (1992;
of associated anomalies in cleft patients. Wyszynski et al. 560 anomalies in 345 patients; mean, 1.6) but fewer than
(2006) concluded that the differences could be due to (1) the frequency reported by Calzolari et al. (2007; 4367 in
differences in case definition and inclusion/exclusion 1589 patients; mean, 2.7).
criteria; (2) length of time after birth that cases are The organ system/area most commonly affected by
examined; (3) variability of clinical expression of associated associated anomalies in a CL/P patient varies in the
anomalies; (4) knowledge and technology available to reported literature. In the present study, facial anomalies
produce syndrome delineation; (5) selection of patients, (21%) were most frequently detected, followed by ocular
sources of ascertainment, and sample size; and (6) true (17%), central nervous system (15%), lower and upper
population differences and changes in frequency over time. extremities (15%), and cardiovascular (10%). In general,
The shortcomings of our study include the absence of a most studies reported associated anomalies to be more
designated dysmorphologist to assess the patients, varying frequent in the extremities, cardiovascular and central
ages at presentation, and inability to assess changes in nervous systems, and the facial region, though the specific
frequency of anomalies over a time period. By documenting frequency of the individual system/area involved varied
a nonselected consecutive series of 1623 patients with CL/P, (Åbyholm, 1978a, 1978b; Shprintzen et al., 1985; Lilius,
this study would have overcome at least some of the case 1992; Milerad et al., 1997; Stoll et al., 2000; Shafi et al.,
selection bias. Though hospital-based studies have often 2003; Calzolari et al., 2007; Alijobar et al., 2008;
reported a higher frequency of associated anomalies in the Rawashdeh and Abu-Hawas, 2008). It is therefore imper-
cleft population, our study from a craniofacial unit is more ative that particular attention be focused on these areas
in keeping with the reports from population-based studies. when assessing a CL/P patient.
This is unlikely to be a result of underreporting because the When the frequency of individual cleft subtypes was
data were prospectively collected in a unit treating a large analyzed in patients with associated anomalies, we found
number of CL/P patients, with specialists from different them to be most frequent in unilateral cleft lip and palate
disciplines seeing the patients and with appropriate access patients (37%), followed by patients with isolated cleft
to additional investigations. The difference is more likely to palate (23%), bilateral cleft lip with palate (20%), cleft lip
represent the designation of and diligence in reporting an with or without alveolus (17%), and submucous cleft palate
374 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4
Anomalies
each category. When the frequency of associated malforma-
8.3
8.3
6.2
9.4
2.8
2.1
9.2
21.4
17.3
% of
15
100
tions was analyzed according to the specific cleft subtype,
submucous cleft patients (53%) were most often affected,
followed by isolated palate (27%), bilateral cleft lip and
palate (23%), unilateral cleft lip and palate (13%), and cleft
lip with or without alveolus (7.7%). These findings are
of Anomalies
Total No.
40
434
9
Milerad et al., 1997; Stoll et al., 2000; Shafi et al., 2003;
Alijohar et al., 2008; Rawashdeh and Abu-Hawas, 2008) and
confirm the tendency for associated malformations to be
more frequent in patients with cleft palate compared with
isolated cleft lip without cleft palate. Rittler et al. (2008)
Cleft Palate
0.42
anencephaly, encephaloceles, club feet, and ear anomalies
24
14
85
7
9
8
8
6
1
1
7
4
4
9
23
18
10
11
1.04) and unilateral (mean, 0.42) cleft lip and palate having
0.23
4
4
29
30
24
14
12
17
15
79
3
6
2
5
3
0
9
(1997) and Stoll et al. (2000), respectively, but less than the
8.4% reported by Lilius (1992). Our study also confirms the
increased frequency of recognized nonchromosomal syn-
dromes in the cleft palate group compared with the cleft lip
Miscellaneous (including neck and chest)
Gastrointestinal
Cardiovascular
Urogenital
Mean
1997).
Sekhon et al., CONGENITAL ANOMALIES WITH CLEFT LIP/PALATE 375
Cleft Lip With or Unilateral Cleft Lip Bilateral Cleft Lip Submucous Isolated
Without Cleft Alveolus With Cleft Palate With Cleft Palate Cleft Palate Cleft Palate
Cleft Lip With or Without Cleft Unilateral Cleft Lip With Bilateral Cleft Lip With Submucous Cleft Isolated Cleft
Alveolus Cleft Palate Cleft Palate Palate Palate
Cleft Lip With or Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Without Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate
Learning difficulties 6 9 2 1 4
Epilepsy 3 4 0 1 2
Encephalocele alone 0 0 0 0 1
Cerebral and cerebellar dysgenesis 0 1 0 0 0
Holoprosencephaly 2 0 0 0 0
Cerebellar hypoplasia 0 0 1 0 0
Agenesis of corpus callosum 1 0 0 0 0
Meningomyelocele 0 1 0 0 2
Spina bifida 0 1 1 0 1
Spasticity 0 1 1 0 0
Congenital deafness 0 2 2 1 2
Cerebral atrophy 0 2 0 0 1
Delayed milestones 2 3 1 0 1
Cerebral palsy 1 0 0 0 0
Total 15 24 9 3 14
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Cleft Palate Palate
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Isolated Cleft Palate
Syndactyly 1 2 2 0 2
Aplasia of radius 0 1 1 0 0
Constriction bands around hand 0 0 2 0 0
Polydactyly 1 3 0 0 4
Clinodactyly 0 1 2 0 0
Deformed digits 0 2 0 1 0
Fingernail deformities 0 0 0 0 2
Simian crease 3 3 1 0 0
Ectrodactyly 1 0 0 0 0
Cleidocranial dysostosis 0 0 1 0 0
Total 6 12 9 1 8
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate
Diaphragmatic hernia 1 1 1 0 0
Anal fistula 0 1 1 0 1
Megacolon 0 0 1 0 0
Umbilical hernia 2 2 0 0 0
Total 3 4 4 0 1
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate
Cryptorchism 0 1 1 0 1
Micropenis 0 1 1 0 0
Congenital pelvic uterine dysjunction 0 1 0 0 0
Polycystic kidney 0 0 1 0 0
Horseshoe kidney 0 1 0 0 0
Dysplastic kidney 0 0 1 0 0
Total 0 4 4 0 1
Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate
Lobulated spleen 0 0 0 0 1
Hypoplastic lung 1 0 0 0 0
Cervical rib 5 7 2 0 2
Hemivertebrae 2 4 3 0 1
Fused vertebrae 1 0 0 0 1
Scoliosis 0 1 0 0 0
Kyphoscoliosis 0 1 2 0 1
Synostosis of ribs 0 1 0 0 1
Deformed vertebrae 0 0 1 0 0
Hypoplastic rib 0 1 0 0 0
Calcified costal cartilage 0 0 1 0 0
Total 9 15 9 0 7
378 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4