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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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Year : 2008  |  Volume : 26  |  Issue : 2  |  Page : 88-91

Syndromes associated with labiopalatine clefting: A report of three cases

Department of Pedodontics and Preventive Dentistry, Christian Dental College, Ludhiana, India

Correspondence Address:
A M Thomas
Department of Pedodontics and Preventive Dentistry, Christian Dental College, Ludhiana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-4388.41625

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Clefts of the lip and palate are a common craniofacial anomaly, The etiology is thought to be multifactorial, with both genetic and environmental factors playing a role. Because of the frequent manifestation of cleft lip and palate in association with some syndromes, it is essential that a detailed examination of these patients be carried out. This facilitates early formulation of preventive and treatment advice and aids in overcoming gross deformities in the early stages of development. In this paper, we review three such patients who presented with cleft lip and palate in association with a syndrome.

Keywords: Cleft lip and palate, Pierre Robin syndrome, Treacher Collins syndrome, van der Woude syndrome

How to cite this article:
Thomas A M, Chopra S, Singh N, Simratvir M, Moghe G. Syndromes associated with labiopalatine clefting: A report of three cases. J Indian Soc Pedod Prev Dent 2008;26:88-91

How to cite this URL:
Thomas A M, Chopra S, Singh N, Simratvir M, Moghe G. Syndromes associated with labiopalatine clefting: A report of three cases. J Indian Soc Pedod Prev Dent [serial online] 2008 [cited 2023 Jan 27];26:88-91. Available from: http://www.jisppd.com/text.asp?2008/26/2/88/41625

   Introduction Top

The clinical manifestations of cleft lip and palate are diverse and range from isolated clefts of the lip to complete bilateral clefts of lip, alveolus, and palate. The prevalence, which is reported to be approximately 1 in 700 live births, can vary with the parents' race/ethnicity and geographic origin and the infant's sex. [1] The true prevalence cannot be gauged because fetuses with malformations are more likely to be spontaneously aborted than healthy fetuses. The prevalence of cleft lip and palate is three times higher in still births than in live births.

Broadly speaking, approximately 70% of the cleft cases are nonsyndromic, and occur as isolated conditions, while the remaining 30% of cases are associated with systemic defects and structural abnormalities. [2] Approximately 400 syndromes are known to be associated with clefts. About 21-37% of cleft patients are reported to exhibit systemic abnormalities involving the cardiovascular, musculoskeletal, and genitourinary system. [3],[4]

The main aim of this study was to evaluate the morphological characteristics of patients presenting with cleft lip and palate in association with a syndrome.

Background and settings

We collected Information from patients reporting to the cleft lip and palate clinic pertaining to the birth history; history of any illness in the mother; history of any medication or of smoking or alcoholism in the mother, dietary history, parental details, etc.

Further, in an effort to elucidate the morphological characteristics of patients with clefts, a complete intraoral and extraoral examination was carried out for the first 50 patients visiting the cleft clinic between January 2007 and June 2007.

   Results Top

Out of a total of 50 patients who visited the cleft clinic, 43 cases of cleft lip and palate were not associated with any syndrome, whereas seven cases were syndromic. Amongst the syndromic cases, five patients presented cleft lip and palate in association with van der Woude syndrome and one each presented with Pierre Robin syndrome and  Treacher Collins syndrome More Details.

Van der Woude syndrome - clinical case presentation

An 8-month-old female child was brought to the clinic with the chief complaint of a discharge from the lower lip. Extraoral examination revealed bilateral cleft of the lip, alveolus, and palate [Figure 1]. A watery discharge was observed draining from bilateral, paramedian, and symmetrically located sinuses on the lower lip. Dental examination revealed erupting 51, 61, and erupted 71, 81.

The depth of the sinuses was gauged with the help of gutta-percha points as shown in [Figure 2].

Pierre Robin syndrome- clinical case presentation

A 1.5-year-old male child reporting to the department for a routine checkup was found to have complete bilateral cleft of lip, alveolus, and hard palate along with mandibular retrognathia [Figure 3]. A detailed history revealed feeding difficulties and delayed developmental milestones. The profile of the child was strikingly convex. Intraoral examination revealed erupted 52, 51, 61, 62, 72, 71, 81, 82 [Figure 4].

Treacher Collins syndrome- clinical case presentation

An 8-year-old female child presented with coloboma of the eyelids, submucous cleft, and micrognathia [Figure 5] and [Figure 6]. Detailed examination revealed decreased anterior-posterior length of the neurocranium and diminished bitemporal width. Intraoral examination revealed erupted first permanent molars along with a full set of deciduous teeth. The child was self-conscious about her appearance due to peer ridicule and wished to undergo corrective procedures.

   Discussion Top

As with all clinically recognizable syndromes, cases of syndromic cleft lip and palate can be subdivided into those that occur as a part of a characterized Mendelian disorder (single gene defect), those due to structural abnormalities of chromosomes, and those occurring as part of syndromes associated with teratogens or those whose causation remains obscure and, therefore, are currently uncharacterized. According to Andrea Sarkozi, [5] out of 3110 cases that were reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, and teratogenic: 4 or 0.6%). Calzori et al . [6] have documented that 70.8% of cleft lip and palate occurred as isolated anomalies and 29.2% were associated with other defects, such as multiple congenital anomalies. In our study, 7 out of 50 (14%) cases presented cleft lip and palate in association with a syndrome. This disparity may be attributed to the small sample size and the demographic distribution of the same.

van der Woude syndrome, the syndrome most frequently seen associated with labiopalatine clefting, is a rare developmental disorder that has autosomal dominant inheritance, with high penetrance and variable expressivity. Lower lip pits and cleft lip, with or without involvement of the palate, are its cardinal signs. The orifices of these pits may be flush with the lower lip, may be located at the apex of nipple-like elevations, or may form a depression (surrounded by a fold of epithelium) as was seen in our patient. The canals always end as blind sacs surrounded by glands. The discharge may be serous or mucous depending on the type of associated glands. The lip pits are usually asymptomatic, except for occasional collection of food particles in the sinus tract.

Hypodontia has also been observed in 10-81% of clefts. [7] In order of frequency, the teeth that are usually missing are the upper second premolars, lower second premolars, and upper lateral incisors. Other frequently associated anomalies include syndactyly of hands, ankyloglossia, and symblepharon.

In the reported case, at the age of 8 months, even the crypts of the premolar teeth had not begun to form; hence, no attempt was made to radiographically determine any missing teeth. Also, none of the other associated abnormalities were seen in the child.

Thus, the expressivity of van der Woude syndrome is variable. All of the signs can be present, either alone or in combination, or no abnormalities may be detected clinically.

Pierre Robin syndrome is a congenital abnormality characterized by the presence of a combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (leading to airway obstruction) and, often, labiopalatine clefting. PRS is not generally diagnosed with ultrasound before birth because a profile view of the fetus is difficult to achieve. [8] An autosomal recessive disorder, the incidence of PRS is reported to be 1 in 80000 to 1 in 200000 live births. [9] A greater incidence in girls is attributed to the fact that the palate takes approximately 1 week longer to fuse completely in girls. The pathogenesis of the syndrome is attributed to mechanical compression of the mandible, genetic growth disturbance, teratogen exposure, and growth arrest due to an in utero insult. It has been postulated that when the mandible is too small it fails to accommodate the descent of the tongue into the mouth; consequently, the tongue remains positioned between the sides of the developing palate, thus preventing complete fusion. The sequelae associated with the syndrome may range from respiratory difficulties (obstructive sleep apnea), nutritional difficulties (regurgitation, gastroesophageal reflux), speech and hearing problems (otitis media, difficulty in speech), crowding of the dentition, and facial asymmetry.

Feeding difficulties arise because the presence of cleft prevents creation of the negative intraoral pressure necessary to withdraw milk from the breast or the bottle. A small jaw and posterior placement of the tongue further impedes effective mechanical sucking movements and chronic airway obstruction further increases the work of breathing.

To counter the feeding difficulties, the mothers may be advised to pump breast milk to aid their infants in breast feeding. Bottle feeding can be accomplished by using a long cross cut nipple and with slight pressure at the angle of the mandible with infant in the prone or side lying position. The compression of the nipple against the bone allows greater expression of milk. Frequent burping is also recommended.

The rate of catch-up growth of the jaw is dependent on the cause of the PRS. A majority of children with isolated PRS achieve normal or near-normal mandibular size within a few years of birth. [10]

Treacher Collins syndrome is an autosomal craniofacial developmental disorder mapped to the gene on chromosome 5q32-q33.1. The prevalence of this syndrome ranges from 1 in 25,000 to 1 in 50,000 live births. [11] Nearly 40% of cases present with a family history of the syndrome, whereas 60% of cases are due to new mutations. The soft tissue deficiencies/deformities in the TCS patient are seen primarily in four regions: the external ears, the eyelid-adnexal structures, preauricular-cheek skin, and the temporal fossa. The extent of the soft tissue deficiency within the facial soft tissue envelope is variable and, to a certain extent, reflective of the skeletal involvement. The associated skeletodental abnormalities range from micrognathia, limited mouth opening to midline deviation and posterior bite opening. Impacted supernumerary teeth, hypoplasia, and positional alterations in teeth may also be seen. The high prevalence of dental anomalies in TCS precludes early recognition of these patients. This may be related to the hypoplastic nature of the syndrome. The degree of malformation present at birth is believed to be relatively stable and nonprogressive with age.

   Conclusion Top

Thus, an evaluation of patients of labiopalatine clefting with multiple congenital anomalies is of critical importance because all the unbalanced autosomal chromosomal aberrations and most gene mutations and teratogens produce syndromes. Multiple congenital anomalies are sensitive indicators of germinal mutations and of exposure to teratogens and their delineation facilitates a better understanding of the phenotypic spectrum, prognosis, and origin of the condition. The latter may be of great importance for genetic counseling or for identifying new teratogenic agents. Gene mapping efforts of some of these conditions might become feasible after the identification of informative families.

A complete evaluation of the functional and morphological characteristics of patients with cleft lip and palate is also of great help in improving the outlook for these patients and enables formulation of a rationale for the timing, method, and extent of surgical and dental intervention.

   Acknowledgments Top

We are grateful to Dr George Koshy and Dr Deepak J. Bhatti for their valuable suggestions, without which this manuscript would not have been possible.

   References Top

1.Bender PL. Genetics of cleft lip and palate. J Pediatr Nurs 2000;15:242-9.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]
2.Jones MC. Etiology of facial clefts: Prospective evaluation of 428 patients. Cleft Palate Jr 1988;25:16-20.  Back to cited text no. 2    
3.Millerad J, Larson O, Hagberg C, Ideberg M. Associated malformations in infants with cleft lip and palate: A perspective population based study. Pediatrics 1997;100:180-6.  Back to cited text no. 3    
4.Stoll C, Alembiky, Dott B, Roth MP. Associated malformations in cases with oral clefts. Cleft Palate Craniofac Jr 2000;37:41-7.  Back to cited text no. 4    
5.Sarkozi A, Wyszynski DF, Czeizel AE. Oral clefts with associated anomalies: Findings in Hungarian congenital abnormality registry. BMC Oral health 2005;5:4.  Back to cited text no. 5    
6.Calzolari E, Pierini A, Astolfi G, Bianchi F, Neville AJ, Riviera F. Associated anomalies in multi- malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCRAT registeries. Am J Med Genet A 2007;143:528-37.  Back to cited text no. 6    
7.Schinzel A, Klausler M. The van der Woude syndrome (dominantly inherited lip pits and clefts). J Med Genet 1986;23:291-4.  Back to cited text no. 7    
8.Lockwood CJ. Congenital anomalies. In : Edenand RD, Boehm FH, editors. Assessment and care of the fetus. Norwalk, CT: Appleton and Lange; 1990. p. 540-4.  Back to cited text no. 8    
9.Bush PG, Williams AJ. Incidence of Robin Anomalad (Pierre Robin syndrome). Br J Plast Surg 1983;36:434-7.  Back to cited text no. 9  [PUBMED]  [FULLTEXT]
10.Amaratunga NA. A comparative clinical study of Pierre Robin syndrome and isolated cleft palate. Br J Oral Maxilllofac Surg 1989;27:451-8.  Back to cited text no. 10    
11.Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of head and neck. New York: Oxford University Press; 2001.  Back to cited text no. 11    


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

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Marcelo Coelho Goiato, Daniela Micheline Santos, Luiz Marcelo Ribeiro Villa
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