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Cleft palate lateral synechia syndrome: Inhereditary or not?
Egyptian Journal of Ear, Nose, Throat and Allied Sciences (2014) 15, 173–175
Egyptian Society of Ear, Nose, Throat and Allied Sciences
Egyptian Journal of Ear, Nose, Throat and Allied Sciences www.ejentas.com
CASE REPORT
Cleft palate lateral synechia syndrome: Inhereditary or not? Shahin AbdollahiFakhim a, Gholamreza Bayazian b, Rezvan Notash a b c
c,*
Associate Professor of Otolaryngology, Pediatrics Hospital, Tabriz University of Medical Sciences, Iran Assistant Professor of Otolaryngology, Iran University of Medical Sciences, Iran Residet of Olaryngology, Department of Otolaryngology, Tabriz University of Medical Sciences, Iran
Received 6 January 2014; accepted 24 February 2014 Available online 27 May 2014
KEYWORDS Cleft palate; Oral lateral synechia; Cleft palate lateral synechia syndrome; Inheredity
Abstract Cleft palate lateral synechia syndrome (CPLS) is a very rare syndrome characterized by a cleft palate, adhesions in the mouth roof, some parts of the tongue or the mouth floor. This is a report of a 12-week-old female infant presented for evaluation of cleft palate, with lateral synechia that caused the inability to fully open the mouth. Release of the synechia was performed without complications. Although some researchers believe CPLS is inherited in an autosomal recessive pattern, our case indicated that a new mutation may cause this situation. Further research is recommended to clearly determine its inheredited and phenotypic variablities. ª 2014 Production and hosting by Elsevier B.V. on behalf of Egyptian Society of Ear, Nose, Throat and Allied Sciences.
1. Introduction Cleft lip and palate is one of the common congenital abnormalities in the head and neck1,2 constituting 65% of head and neck anomalies in isolated or syndromic forms.3 Each year about 150,000 infants are born with cleft palate in the world.4 In 1972,5 described a novel syndrome consisting of cleft palate (CP) and lateral synechia (LS) between the palate and the * Corresponding author. Address: Department of Otolaryngology, Tabriz University of Medical Sciences, Tabriz, Iran. Tel.: +98 9144017138; fax: +98 4113352076. E-mail address: [email protected] (R. Notash). Peer review under responsibility of Egyptian Society of Ear, Nose, Throat and Allied Sciences.
Production and hosting by Elsevier
mouth floor. So far, this constellation of malformations has been denoted as cleft-palate lateral synechia syndrome (CPLS). Although cleft palate is a congenital anomaly with a relatively high incidence, there are few cases in which it is accompanied by oral synechia due to cord-like adhesions. Other symptoms include cleft palate, mouth adhesions, and inability to fully open the mouth. Thus, surgical division of the adhesions is necessary to allow normal feeding, to avoid upper airway obstruction and to allow normal mandibular function and growth. 2. Case report A 12-week-old female infant was presented in the Tabriz Pediatrics Hospital, Tabriz, Iran for evaluation of a cleft palate. She had a wide unilateral left cleft palate and a lateral synechia. The mucosa-lined, fibromuscular tissue bands were connected from the lateral free border of the cleft palate to the mouth floor in the left side of the tongue, so she was unable
2090-0740 ª 2014 Production and hosting by Elsevier B.V. on behalf of Egyptian Society of Ear, Nose, Throat and Allied Sciences. http://dx.doi.org/10.1016/j.ejenta.2014.02.003
174
S. AbdollahiFakhim et al.
Figure 1
Wide cleft palate is shown in the figure.
Figure 2 A fibromuscular band is shown from the left cleft edge to the floor of the mouth.
to fully open her mouth (Figs. 1 and 2). Except for the shortened superior labial frenulum, no other anomalies in craniofacial, digital, genitalia or limbs were observed. Her twin brother did not show any similar anomalies. The case was preterm (34 weeks) and was hospitalized for 11 days after birth due to respiratory distress. Her birth weight was 1200 g. No history of cleft palate or other anomalies was reported in her family. Her parents were not attributed, too. Her mother had no history of smoking, however she had to take atenolol for her gestational hypertension during her pregnancy. Release of the synechia and her short frenulum was performed by cauterization in the operation room without any complications. As a result, the patient could fully open her mouth with no difficulty. She was discharged on antibiotics and anticipation for the proper time to undergo an operation on cleft palate.
the other had an equally affected brother. Genetic aspects and phenotypic manifestation were compared with those observed in the patients reported with oral synechia. They were diagnosed for autosomal recessive inheritance of this syndrome due to the recurrence in siblings.7 Congenital interalveolar synechia frequently shows syndromic associations despite the occurrence of isolated instances. In a report by Tanrikulu et al. (2005), the patient was a 10-month-old female infant with isolated congenital alveolar synechia without any other anomalies.8 Since cleft palate with oral synechia is among the rarest congenital deformities, the midline synechia is less common than lateral ones. Several case reports were published on the midline oral synechia with epithelial cyst in neonate and the cleft palates.9 In a study, the researchers reported on one case of oral synechia by a single medial cord-like adhesion accompanied by the cleft palate, micrognathia, ankyloglossia, and shortening of the superior labial frenulum. They tentatively named this rare condition as ‘‘cleft palate medial synechia syndrome’’.10 In another study, it was suggested that CPLS might represent a mild phenotypic expression of the Fryns syndrome influenced by environmental factors like temperature, viral infection or stochastic events.11 Fryns syndrome should be considered in the diagnosis of all patients with the combination of alveolar synechia, cleft palate, and distal digital hypoplasia. Clinicians are recommended to expect the phenotypic variability in counseling and caring for the families of the children with CPLS. In this article, a 12-week old female infant was presented with CPLS and lateral synechia syndrome with no other anomalies. She had a healthy twin. No histories of cleft palates existed in her family. The chances were that she had a new mutation. On the other hand, since she had a healthy twin, the effects of environmental factors on this manifestation are under question. Further research is highly recommended to study the origin of the lateral synechia syndrome in this case. 4. Conclusion As discussed earlier, some researchers believe that CPLS is inherited in an autosomal recessive pattern, but our case indicated that a new mutation may lead to this situation. Further research is recommended to determine inheridity and phenotype variability in similar cases. Conflict of interest We have no conflict of interest to declare. References
3. Discussion Interalveolar adhesions are usually associated with such congenital syndromes as the Van der Woude syndrome, Popliteal Pterygium syndrome, Orofacial Digital syndromes, and cleft palate lateral synechia (CPLS) syndrome. As a rare condition, in some studies, CPLS supports the suspected pattern of autosomal dominant inheritance with variable expressivity.6 Guion-Almeida and Nakat examined three Brazilian children affected with LSC. One patient was an isolated case while
1. Sommerlad BC. The management of cleft lip and palate. Curr Paediatr. 2002;12(1):43–50. 2. Ruhl CE, Everhart JE. Risk estimation for multifactorial diseases. Annal ICRP. 2004;29:17–26. 3. Perrotin F, Ponvcheville L, Marret H, Paillet C. Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate. Eur J Obstet Gynecol. 2001;99:19–24. 4. Coady MS, Moore MH, Wallis K. Amniotic band syndrome: the association between rare facial clefts and limb ring constrictions. Plast Reconst Surg. 1998;101:640–6645.
Cleft palate lateral synechia syndrome 5. Fuhrmann W, Koch F, Schweckendiek W. Autosomal dominant inheritance of cleft palate and synechias between the palate and floor of the mouth or tongue. Humangenetik.. 1972;14:196–203. 6. Donepudi SK, Stocks RM. Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. Int J Pediatr Otorhinolaryngol. 2009;73(6):861–866. 7. Guion-Almeida ML, Nancy M, Nakat N. Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity. Am J Med Genet. 1993;47(3):330–332. 8. Tanrikulu R, Erol B, Go¨rgu¨n B, Ilhan O¨. Congenital alveolar synechiae––a case report. Br Dent J. 2005;198(2):81–82.
175 9. German M, Wong H. Oral synechia with epithelial cyst in neonate with cleft palate: a case report. Cleft Palate Craniofac J. 2011;48(3):348–350. 10. Ogino A, Onish K, Maruyama Y. Congenital oral synechia associated with cleft palate: cleft palate medial synechia syndrome? Eur J Plast Surg. 2005;27(7):338–340. 11. Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M. Cleftpalate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? Birth Defects Res A Clin Mol Teratol. 2003;67(6):460–466.
Egyptian Society of Ear, Nose, Throat and Allied Sciences
Egyptian Journal of Ear, Nose, Throat and Allied Sciences www.ejentas.com
CASE REPORT
Cleft palate lateral synechia syndrome: Inhereditary or not? Shahin AbdollahiFakhim a, Gholamreza Bayazian b, Rezvan Notash a b c
c,*
Associate Professor of Otolaryngology, Pediatrics Hospital, Tabriz University of Medical Sciences, Iran Assistant Professor of Otolaryngology, Iran University of Medical Sciences, Iran Residet of Olaryngology, Department of Otolaryngology, Tabriz University of Medical Sciences, Iran
Received 6 January 2014; accepted 24 February 2014 Available online 27 May 2014
KEYWORDS Cleft palate; Oral lateral synechia; Cleft palate lateral synechia syndrome; Inheredity
Abstract Cleft palate lateral synechia syndrome (CPLS) is a very rare syndrome characterized by a cleft palate, adhesions in the mouth roof, some parts of the tongue or the mouth floor. This is a report of a 12-week-old female infant presented for evaluation of cleft palate, with lateral synechia that caused the inability to fully open the mouth. Release of the synechia was performed without complications. Although some researchers believe CPLS is inherited in an autosomal recessive pattern, our case indicated that a new mutation may cause this situation. Further research is recommended to clearly determine its inheredited and phenotypic variablities. ª 2014 Production and hosting by Elsevier B.V. on behalf of Egyptian Society of Ear, Nose, Throat and Allied Sciences.
1. Introduction Cleft lip and palate is one of the common congenital abnormalities in the head and neck1,2 constituting 65% of head and neck anomalies in isolated or syndromic forms.3 Each year about 150,000 infants are born with cleft palate in the world.4 In 1972,5 described a novel syndrome consisting of cleft palate (CP) and lateral synechia (LS) between the palate and the * Corresponding author. Address: Department of Otolaryngology, Tabriz University of Medical Sciences, Tabriz, Iran. Tel.: +98 9144017138; fax: +98 4113352076. E-mail address: [email protected] (R. Notash). Peer review under responsibility of Egyptian Society of Ear, Nose, Throat and Allied Sciences.
Production and hosting by Elsevier
mouth floor. So far, this constellation of malformations has been denoted as cleft-palate lateral synechia syndrome (CPLS). Although cleft palate is a congenital anomaly with a relatively high incidence, there are few cases in which it is accompanied by oral synechia due to cord-like adhesions. Other symptoms include cleft palate, mouth adhesions, and inability to fully open the mouth. Thus, surgical division of the adhesions is necessary to allow normal feeding, to avoid upper airway obstruction and to allow normal mandibular function and growth. 2. Case report A 12-week-old female infant was presented in the Tabriz Pediatrics Hospital, Tabriz, Iran for evaluation of a cleft palate. She had a wide unilateral left cleft palate and a lateral synechia. The mucosa-lined, fibromuscular tissue bands were connected from the lateral free border of the cleft palate to the mouth floor in the left side of the tongue, so she was unable
2090-0740 ª 2014 Production and hosting by Elsevier B.V. on behalf of Egyptian Society of Ear, Nose, Throat and Allied Sciences. http://dx.doi.org/10.1016/j.ejenta.2014.02.003
174
S. AbdollahiFakhim et al.
Figure 1
Wide cleft palate is shown in the figure.
Figure 2 A fibromuscular band is shown from the left cleft edge to the floor of the mouth.
to fully open her mouth (Figs. 1 and 2). Except for the shortened superior labial frenulum, no other anomalies in craniofacial, digital, genitalia or limbs were observed. Her twin brother did not show any similar anomalies. The case was preterm (34 weeks) and was hospitalized for 11 days after birth due to respiratory distress. Her birth weight was 1200 g. No history of cleft palate or other anomalies was reported in her family. Her parents were not attributed, too. Her mother had no history of smoking, however she had to take atenolol for her gestational hypertension during her pregnancy. Release of the synechia and her short frenulum was performed by cauterization in the operation room without any complications. As a result, the patient could fully open her mouth with no difficulty. She was discharged on antibiotics and anticipation for the proper time to undergo an operation on cleft palate.
the other had an equally affected brother. Genetic aspects and phenotypic manifestation were compared with those observed in the patients reported with oral synechia. They were diagnosed for autosomal recessive inheritance of this syndrome due to the recurrence in siblings.7 Congenital interalveolar synechia frequently shows syndromic associations despite the occurrence of isolated instances. In a report by Tanrikulu et al. (2005), the patient was a 10-month-old female infant with isolated congenital alveolar synechia without any other anomalies.8 Since cleft palate with oral synechia is among the rarest congenital deformities, the midline synechia is less common than lateral ones. Several case reports were published on the midline oral synechia with epithelial cyst in neonate and the cleft palates.9 In a study, the researchers reported on one case of oral synechia by a single medial cord-like adhesion accompanied by the cleft palate, micrognathia, ankyloglossia, and shortening of the superior labial frenulum. They tentatively named this rare condition as ‘‘cleft palate medial synechia syndrome’’.10 In another study, it was suggested that CPLS might represent a mild phenotypic expression of the Fryns syndrome influenced by environmental factors like temperature, viral infection or stochastic events.11 Fryns syndrome should be considered in the diagnosis of all patients with the combination of alveolar synechia, cleft palate, and distal digital hypoplasia. Clinicians are recommended to expect the phenotypic variability in counseling and caring for the families of the children with CPLS. In this article, a 12-week old female infant was presented with CPLS and lateral synechia syndrome with no other anomalies. She had a healthy twin. No histories of cleft palates existed in her family. The chances were that she had a new mutation. On the other hand, since she had a healthy twin, the effects of environmental factors on this manifestation are under question. Further research is highly recommended to study the origin of the lateral synechia syndrome in this case. 4. Conclusion As discussed earlier, some researchers believe that CPLS is inherited in an autosomal recessive pattern, but our case indicated that a new mutation may lead to this situation. Further research is recommended to determine inheridity and phenotype variability in similar cases. Conflict of interest We have no conflict of interest to declare. References
3. Discussion Interalveolar adhesions are usually associated with such congenital syndromes as the Van der Woude syndrome, Popliteal Pterygium syndrome, Orofacial Digital syndromes, and cleft palate lateral synechia (CPLS) syndrome. As a rare condition, in some studies, CPLS supports the suspected pattern of autosomal dominant inheritance with variable expressivity.6 Guion-Almeida and Nakat examined three Brazilian children affected with LSC. One patient was an isolated case while
1. Sommerlad BC. The management of cleft lip and palate. Curr Paediatr. 2002;12(1):43–50. 2. Ruhl CE, Everhart JE. Risk estimation for multifactorial diseases. Annal ICRP. 2004;29:17–26. 3. Perrotin F, Ponvcheville L, Marret H, Paillet C. Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate. Eur J Obstet Gynecol. 2001;99:19–24. 4. Coady MS, Moore MH, Wallis K. Amniotic band syndrome: the association between rare facial clefts and limb ring constrictions. Plast Reconst Surg. 1998;101:640–6645.
Cleft palate lateral synechia syndrome 5. Fuhrmann W, Koch F, Schweckendiek W. Autosomal dominant inheritance of cleft palate and synechias between the palate and floor of the mouth or tongue. Humangenetik.. 1972;14:196–203. 6. Donepudi SK, Stocks RM. Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. Int J Pediatr Otorhinolaryngol. 2009;73(6):861–866. 7. Guion-Almeida ML, Nancy M, Nakat N. Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity. Am J Med Genet. 1993;47(3):330–332. 8. Tanrikulu R, Erol B, Go¨rgu¨n B, Ilhan O¨. Congenital alveolar synechiae––a case report. Br Dent J. 2005;198(2):81–82.
175 9. German M, Wong H. Oral synechia with epithelial cyst in neonate with cleft palate: a case report. Cleft Palate Craniofac J. 2011;48(3):348–350. 10. Ogino A, Onish K, Maruyama Y. Congenital oral synechia associated with cleft palate: cleft palate medial synechia syndrome? Eur J Plast Surg. 2005;27(7):338–340. 11. Jaeger A, Kapur R, Whelan M, Leung E, Cunningham M. Cleftpalate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? Birth Defects Res A Clin Mol Teratol. 2003;67(6):460–466.