International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619
Contents lists available at ScienceDirect
International Journal of Pediatric Otorhinolaryngology journal homepage: www.elsevier.com/locate/ijporl
Case Report
An unusual craniofacial cleft: Amniotic band syndrome as a possible cause§,§§ Mitchell G. Eichhorn a,*, John J. Iacobucci b, Zaahir Turfe c a
Grand Rapids Medical Education Partners/Michigan State University, 1000 Monroe, Grand Rapids, MI 49505, United States Department of Plastic Surgery, Grand Rapids Medical Education Partners/Michigan State University, 1000 Monroe, Grand Rapids, MI 49505, United States c Michigan State University, 1000 Monroe, Grand Rapids, MI 49505, United States b
A R T I C L E I N F O
A B S T R A C T
Article history: Received 19 August 2014 Received in revised form 8 November 2014 Accepted 14 November 2014 Available online 21 January 2015
We report the case of a no. 4 Tessier cleft in association with an unknown cleft of the mandible extending to the external auditory meatus. This has not been previously published in the literature and its underlying pathology remains undetermined. The nature of the cleft, possible classifications, and potential embryologic origins will be discussed. Amniotic band syndrome is the most likely cause of the cleft. ß 2015 Elsevier Ireland Ltd. All rights reserved.
Keywords: Craniofacial cleft Tessier classification Tessier 4 cleft Amniotic band syndrome Amniotic band sequence Mandibular defect
1. Case report The patient is a 6-year old female who was referred for craniofacial malformations present since birth. She had no other diagnosed medical conditions, physical exam revealed no concern for cardiac abnormalities or neurological impairment. Her parents reported no significant past medical history and her pregnancy was without complications. The left sided cleft began at the lower eyelid lateral to the medial canthus and extended across the orbital rim, medial to the infraorbital foramen, and into the upper lip between the philtral column and commissure. There was distortion of the anterior maxillary sinus and the cleft extended into the alveolus between the lateral incisor and canine. There was right-sided deviation of the nose due to traction from anomalous insertion of the orbicularis oris. The findings were most consistent with a Tessier no. 4 cleft (Figs. 1–5).
The mandibular cleft was a soft tissue ridge within a depression 3 mm wide. It began at the lower lip vermillion border inline with the upper lip cleft, with a lateral extent between lower incisor and canine. This extended inferiorly and obliquely to the midline at the pogonion and then posteriorly to the angle of the mandible. The cleft paralleled the angle of the mandible until it terminated in the external auditory meatus. There was effacement of the concha, tragus, and anti-tragus as well as pre auricular skin tag. The tympanic membrane was intact and not involved. She had no hearing loss in the involved ear. Cranial nerves, including VII, VIII, and V, were intact bilaterally. The mandibular bone was not involved in the cleft (Figs. 1–5). The soft tissues of the cleft were closed by incorporating a zplasty infraorbitally. This allowed enough vertical length to approximate the lower eyelid and upper lid vermillion border without tension. The closure was successful in creating a functional lower lid and upper lip. 2. Discussion
§
Poster Presentation at Grand Rapids Medical Education Partners Research Day, April 2014. §§ Authors have no financial disclosures and the study was performed in accordance with the Declaration of Helsinki, no patient information accessed and IRB approval not applicable. * Corresponding author at: 1000 Monroe NW, Grand Rapids, MI 49503, United States. Tel.: +1 616 391 1909; fax: +1 616 732 6255. E-mail address: [email protected] (M.G. Eichhorn). http://dx.doi.org/10.1016/j.ijporl.2014.11.036 0165-5876/ß 2015 Elsevier Ireland Ltd. All rights reserved.
Paul Tessier introduced the Tessier classification of clefts in 1976 and it has since become the standard for descriptions of craniofacial clefts [1]. The Tessier classifications describe clinical patterns of clefts formed by anomalies in the formation and organization of embryologic structures. Updated classification systems have been proposed that suggest an embryopathogenesis
M.G. Eichhorn et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619
617
Fig. 1. Left sided cleft beginning at the lower eyelid, lateral to medial canthus, and extending to upper lip between the philtrum and commissure. This is consistent with a Tessier no. 4 cleft.
Fig. 3. Collinear cleft extending inferiorly, obliquely, and laterally from the lower lip, across the pogonion, to the right angle of the mandible.
for cleft development and also allow for a greater description of the defects [2]. Certain combinations of clefts frequently occur in the same patient leading to named syndromes such as Goldenhar’s, a 7 and 8 cleft, and Treacher Collins, a 6, 7, and 8 cleft [3]. Non-syndromic combinations of clefts are rare, as is the
no. 4 cleft [4]. Rare facial clefts as a group occur in 1.43–4.85 per 100,000 births [3]. Presented here is a rare facial cleft not described by traditional Tessier classification. It begins with a left sided no. 4 cleft. An additional unclassified cleft then begins on the paramedian
Fig. 2. The cleft extends across stoma and is collinear with lower lip and the obliquely oriented mandibular cleft.
Fig. 4. The cleft paralleled the mandible and terminated at the external auditory meatus. A soft tissue ridge is apparent.
618
M.G. Eichhorn et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619
The patient presented here appears to have been affected by disruptive forces caused by amniotic bands. The jaw was remarkably well proportioned, as was the maxilla, and a band like groove was also seen along the mandible. The bands settled into and affected natural depressions, the orbit, stoma, and external auditory meatus. Interestingly, the mandibular cleft is co-linear with the maxillary cleft, which suggests an extrinsic rather than intrinsic cause. A mandibular cleft of this type is extremely unusual, and is particularly significant due its alignment with no. 4 cleft across the stoma. This observation cannot be explained by aberrant embryologic facial development, nor can the gently curved course of the cleft of along the mandible. Extrinsic disruption appears to be the most logical explanation for this cleft, especially considering the close association of rare oblique facial clefts with amniotic banding in the extremities [4,5,11,14]. Only one case report similar to ours has been published [12]. This child also had a left sided oblique cleft and a curved rightsided paramedian mandibular cleft that terminated anterior to the right ear. They concluded by similar reasoning that amniotic bands must have caused the cleft. Neither this child nor the child presented here had amniotic banding of the extremities or any other extra cranial manifestation of amniotic band syndrome. Coady et al. found that 13% patients with rare facial clefts also had limb ring constriction deformities and that children with limb ring deformities had significantly more clefts that those without limb constriction deformities [14]. Fig. 5. Cleft after repair incorporating an infraorbital z-plasty. The lower lid and oral clefts were successfully closed.
mandible, extends along the right angle of the mandible, and terminates at the right external auditory meatus. The six-year old child was otherwise healthy and her no. 4 cleft was repaired. An embryological basis for this cleft is not easily explained by disparities at the embryonic fusion lines. A disruption at the junction of the lateral nasal and maxillary prominences would be located more medially and along the nasolacrimal groove, involving the ipsilateral philtral column and medial canthus. A disruption at the maxillary and mandibular prominence junction would be located more laterally. The latter pair could account for the right-sided mandibular cleft, as a first brachial cleft cyst can involve the external auditory meatus. However, this type of brachial cleft cyst has never been reported, nor has it been reported in association with a Tessier 4 cleft. A more plausible cause for this type of cleft is disruption from amniotic bands. There are multiple reports in the literature of oblique facial clefts, including Tessier no. 4 clefts that have been associated with amniotic band syndrome [4–10]. It has been proposed that the fetus partially swallows amniotic bands due to the continuous inward flow of amniotic fluid [11]. The bands become involved in the developing palate and are tethered across the face on either side of the more prominent nose, often involving the depressed orbit. The result is an oral-ocular cleft, often referred to as an oblique cleft. Oblique clefts account for approximately 0.25% of all clefts and can be caused by a failure of mesodermal migration and fusion or by amniotic bands [12]. Higginbottom et al. [13] hypothesized the importance of timing when explaining defects caused by amniotic bands. He classified the causes of the defects due to amniotic bands into malformation, deformation, and disruption. Malformations occur before the structures are fully formed whereas disruptions cause defects in structures that have already formed. Disruptive forces acting on the developed face after 8 weeks would be expected to cause local deformations along the axis of the amniotic band rather than regional anatomical disorganization.
3. Conclusion Presented here is an extremely rare cleft cause by an isolated manifestation of amniotic band syndrome. Amniotic bands could be a significant cause of rare facial clefts, however, the diagnosis of this syndrome is difficult without concurrent deformities or an obvious amniotic band in the facial cleft. In this case, the unusual mandibular cleft and the concurrent oblique facial cleft expounded the diagnosis. Despite multiple reports, the true incidence of craniofacial involvement in amniotic band syndrome remains unknown. Their contribution to craniofacial malformations has likely been under recognized. Conflict of interest None declared.
Appendix A. Supplementary data Supplementary data associated with this article can be found, in the online version, at http://dx.doi.org/10.1016/j.ijporl.2014.11. 036. References [1] P. Tessier, Anatomical classification facial, cranio-facial and latero-facial clefts, J. Maxillofac. Surg. 4 (1976) 69–92. [2] K.A. Allam, et al., The spectrum of median craniofacial dysplasia, Plast. Reconstr. Surg. 127 (2011) 812–821. [3] F. Bodin, B. Salazard, J. Bardot, G. Magalon, Craniofacial cleft: a case of Tessier no. 3, 7 and 11 cleft, J. Plast. Reconstr. Aesthet. Surg. 59 (2006) 1388–1390. [4] N. Alonso, S. Freitas Rda, G.A. de Oliveira e Cruz, D. Goldenberg, A.R. Dall’oglio Tolazzi, Tessier no. 4 facial cleft: evolution of surgical treatment in a large series of patients, Plast. Reconstr. Surg. 122 (2008) 1505–1513. [5] A. Barabde, S.M. Barabde, A. Bhagat, A. Thakare, Orbital prosthetic rehabilitation in ‘‘ADAM complex’’ multiple orofacial-cleft disruption syndrome, Case Rep. Surg. 2013 (2013) 809479. [6] S. Verchere, B. Khalil, V. Maddukuri, C.A. Hagberg, Use of the DCI video laryngoscope system in a pediatric patient with amniotic band syndrome and craniofacial abnormalities affecting the airway, J. Clin. Anesth. 24 (2012) 151–154.
M.G. Eichhorn et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619 [7] C.G. Morovic, F. Berwart, J. Varas, Craniofacial anomalies of the amniotic band syndrome in serial clinical cases, Plast. Reconstr. Surg. 113 (2004) 1556–1562. [8] J.K. Muraskas, J.F. McDonnell, R.J. Chudik, K.E. Salyer, L. Glynn, Amniotic band syndrome with significant orofacial clefts and disruptions and distortions of craniofacial structures, J. Pediatr. Surg. 38 (2003) 635–638. [9] A. Richieri-Costa, R.J. Gorlin, Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity, Am. J. Med. Genet. 53 (1994) 222–226. [10] B.J. Mayou, O.M. Fenton, Oblique facial clefts caused by amniotic bands, Plast. Reconstr. Surg. 68 (1981) 675–681.
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[11] B.L. Eppley, L. David, M. Li, C.A. Moore, A.M. Sadove, Amniotic band facies, J. Craniofac. Surg. 9 (1998) 360–365. [12] H.O. Olasoji, C. Tahir, A. Isa, An unusual bilateral oblique facial cleft in a newborn, Int. J. Pediatr. Otorhinolaryngol. 69 (2005) 999–1001. [13] M.C. Higginbottom, K.L. Jones, B.D. Hall, D.W. Smith, The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects, J. Pediatr. 95 (1979) 544–549. [14] M.S. Coady, M.H. Moore, K. Wallis, Amniotic band syndrome: the association between rare facial clefts and limb ring constrictions, Plast. Reconstr. Surg. 101 (1998) 640–649.
Contents lists available at ScienceDirect
International Journal of Pediatric Otorhinolaryngology journal homepage: www.elsevier.com/locate/ijporl
Case Report
An unusual craniofacial cleft: Amniotic band syndrome as a possible cause§,§§ Mitchell G. Eichhorn a,*, John J. Iacobucci b, Zaahir Turfe c a
Grand Rapids Medical Education Partners/Michigan State University, 1000 Monroe, Grand Rapids, MI 49505, United States Department of Plastic Surgery, Grand Rapids Medical Education Partners/Michigan State University, 1000 Monroe, Grand Rapids, MI 49505, United States c Michigan State University, 1000 Monroe, Grand Rapids, MI 49505, United States b
A R T I C L E I N F O
A B S T R A C T
Article history: Received 19 August 2014 Received in revised form 8 November 2014 Accepted 14 November 2014 Available online 21 January 2015
We report the case of a no. 4 Tessier cleft in association with an unknown cleft of the mandible extending to the external auditory meatus. This has not been previously published in the literature and its underlying pathology remains undetermined. The nature of the cleft, possible classifications, and potential embryologic origins will be discussed. Amniotic band syndrome is the most likely cause of the cleft. ß 2015 Elsevier Ireland Ltd. All rights reserved.
Keywords: Craniofacial cleft Tessier classification Tessier 4 cleft Amniotic band syndrome Amniotic band sequence Mandibular defect
1. Case report The patient is a 6-year old female who was referred for craniofacial malformations present since birth. She had no other diagnosed medical conditions, physical exam revealed no concern for cardiac abnormalities or neurological impairment. Her parents reported no significant past medical history and her pregnancy was without complications. The left sided cleft began at the lower eyelid lateral to the medial canthus and extended across the orbital rim, medial to the infraorbital foramen, and into the upper lip between the philtral column and commissure. There was distortion of the anterior maxillary sinus and the cleft extended into the alveolus between the lateral incisor and canine. There was right-sided deviation of the nose due to traction from anomalous insertion of the orbicularis oris. The findings were most consistent with a Tessier no. 4 cleft (Figs. 1–5).
The mandibular cleft was a soft tissue ridge within a depression 3 mm wide. It began at the lower lip vermillion border inline with the upper lip cleft, with a lateral extent between lower incisor and canine. This extended inferiorly and obliquely to the midline at the pogonion and then posteriorly to the angle of the mandible. The cleft paralleled the angle of the mandible until it terminated in the external auditory meatus. There was effacement of the concha, tragus, and anti-tragus as well as pre auricular skin tag. The tympanic membrane was intact and not involved. She had no hearing loss in the involved ear. Cranial nerves, including VII, VIII, and V, were intact bilaterally. The mandibular bone was not involved in the cleft (Figs. 1–5). The soft tissues of the cleft were closed by incorporating a zplasty infraorbitally. This allowed enough vertical length to approximate the lower eyelid and upper lid vermillion border without tension. The closure was successful in creating a functional lower lid and upper lip. 2. Discussion
§
Poster Presentation at Grand Rapids Medical Education Partners Research Day, April 2014. §§ Authors have no financial disclosures and the study was performed in accordance with the Declaration of Helsinki, no patient information accessed and IRB approval not applicable. * Corresponding author at: 1000 Monroe NW, Grand Rapids, MI 49503, United States. Tel.: +1 616 391 1909; fax: +1 616 732 6255. E-mail address: [email protected] (M.G. Eichhorn). http://dx.doi.org/10.1016/j.ijporl.2014.11.036 0165-5876/ß 2015 Elsevier Ireland Ltd. All rights reserved.
Paul Tessier introduced the Tessier classification of clefts in 1976 and it has since become the standard for descriptions of craniofacial clefts [1]. The Tessier classifications describe clinical patterns of clefts formed by anomalies in the formation and organization of embryologic structures. Updated classification systems have been proposed that suggest an embryopathogenesis
M.G. Eichhorn et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619
617
Fig. 1. Left sided cleft beginning at the lower eyelid, lateral to medial canthus, and extending to upper lip between the philtrum and commissure. This is consistent with a Tessier no. 4 cleft.
Fig. 3. Collinear cleft extending inferiorly, obliquely, and laterally from the lower lip, across the pogonion, to the right angle of the mandible.
for cleft development and also allow for a greater description of the defects [2]. Certain combinations of clefts frequently occur in the same patient leading to named syndromes such as Goldenhar’s, a 7 and 8 cleft, and Treacher Collins, a 6, 7, and 8 cleft [3]. Non-syndromic combinations of clefts are rare, as is the
no. 4 cleft [4]. Rare facial clefts as a group occur in 1.43–4.85 per 100,000 births [3]. Presented here is a rare facial cleft not described by traditional Tessier classification. It begins with a left sided no. 4 cleft. An additional unclassified cleft then begins on the paramedian
Fig. 2. The cleft extends across stoma and is collinear with lower lip and the obliquely oriented mandibular cleft.
Fig. 4. The cleft paralleled the mandible and terminated at the external auditory meatus. A soft tissue ridge is apparent.
618
M.G. Eichhorn et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619
The patient presented here appears to have been affected by disruptive forces caused by amniotic bands. The jaw was remarkably well proportioned, as was the maxilla, and a band like groove was also seen along the mandible. The bands settled into and affected natural depressions, the orbit, stoma, and external auditory meatus. Interestingly, the mandibular cleft is co-linear with the maxillary cleft, which suggests an extrinsic rather than intrinsic cause. A mandibular cleft of this type is extremely unusual, and is particularly significant due its alignment with no. 4 cleft across the stoma. This observation cannot be explained by aberrant embryologic facial development, nor can the gently curved course of the cleft of along the mandible. Extrinsic disruption appears to be the most logical explanation for this cleft, especially considering the close association of rare oblique facial clefts with amniotic banding in the extremities [4,5,11,14]. Only one case report similar to ours has been published [12]. This child also had a left sided oblique cleft and a curved rightsided paramedian mandibular cleft that terminated anterior to the right ear. They concluded by similar reasoning that amniotic bands must have caused the cleft. Neither this child nor the child presented here had amniotic banding of the extremities or any other extra cranial manifestation of amniotic band syndrome. Coady et al. found that 13% patients with rare facial clefts also had limb ring constriction deformities and that children with limb ring deformities had significantly more clefts that those without limb constriction deformities [14]. Fig. 5. Cleft after repair incorporating an infraorbital z-plasty. The lower lid and oral clefts were successfully closed.
mandible, extends along the right angle of the mandible, and terminates at the right external auditory meatus. The six-year old child was otherwise healthy and her no. 4 cleft was repaired. An embryological basis for this cleft is not easily explained by disparities at the embryonic fusion lines. A disruption at the junction of the lateral nasal and maxillary prominences would be located more medially and along the nasolacrimal groove, involving the ipsilateral philtral column and medial canthus. A disruption at the maxillary and mandibular prominence junction would be located more laterally. The latter pair could account for the right-sided mandibular cleft, as a first brachial cleft cyst can involve the external auditory meatus. However, this type of brachial cleft cyst has never been reported, nor has it been reported in association with a Tessier 4 cleft. A more plausible cause for this type of cleft is disruption from amniotic bands. There are multiple reports in the literature of oblique facial clefts, including Tessier no. 4 clefts that have been associated with amniotic band syndrome [4–10]. It has been proposed that the fetus partially swallows amniotic bands due to the continuous inward flow of amniotic fluid [11]. The bands become involved in the developing palate and are tethered across the face on either side of the more prominent nose, often involving the depressed orbit. The result is an oral-ocular cleft, often referred to as an oblique cleft. Oblique clefts account for approximately 0.25% of all clefts and can be caused by a failure of mesodermal migration and fusion or by amniotic bands [12]. Higginbottom et al. [13] hypothesized the importance of timing when explaining defects caused by amniotic bands. He classified the causes of the defects due to amniotic bands into malformation, deformation, and disruption. Malformations occur before the structures are fully formed whereas disruptions cause defects in structures that have already formed. Disruptive forces acting on the developed face after 8 weeks would be expected to cause local deformations along the axis of the amniotic band rather than regional anatomical disorganization.
3. Conclusion Presented here is an extremely rare cleft cause by an isolated manifestation of amniotic band syndrome. Amniotic bands could be a significant cause of rare facial clefts, however, the diagnosis of this syndrome is difficult without concurrent deformities or an obvious amniotic band in the facial cleft. In this case, the unusual mandibular cleft and the concurrent oblique facial cleft expounded the diagnosis. Despite multiple reports, the true incidence of craniofacial involvement in amniotic band syndrome remains unknown. Their contribution to craniofacial malformations has likely been under recognized. Conflict of interest None declared.
Appendix A. Supplementary data Supplementary data associated with this article can be found, in the online version, at http://dx.doi.org/10.1016/j.ijporl.2014.11. 036. References [1] P. Tessier, Anatomical classification facial, cranio-facial and latero-facial clefts, J. Maxillofac. Surg. 4 (1976) 69–92. [2] K.A. Allam, et al., The spectrum of median craniofacial dysplasia, Plast. Reconstr. Surg. 127 (2011) 812–821. [3] F. Bodin, B. Salazard, J. Bardot, G. Magalon, Craniofacial cleft: a case of Tessier no. 3, 7 and 11 cleft, J. Plast. Reconstr. Aesthet. Surg. 59 (2006) 1388–1390. [4] N. Alonso, S. Freitas Rda, G.A. de Oliveira e Cruz, D. Goldenberg, A.R. Dall’oglio Tolazzi, Tessier no. 4 facial cleft: evolution of surgical treatment in a large series of patients, Plast. Reconstr. Surg. 122 (2008) 1505–1513. [5] A. Barabde, S.M. Barabde, A. Bhagat, A. Thakare, Orbital prosthetic rehabilitation in ‘‘ADAM complex’’ multiple orofacial-cleft disruption syndrome, Case Rep. Surg. 2013 (2013) 809479. [6] S. Verchere, B. Khalil, V. Maddukuri, C.A. Hagberg, Use of the DCI video laryngoscope system in a pediatric patient with amniotic band syndrome and craniofacial abnormalities affecting the airway, J. Clin. Anesth. 24 (2012) 151–154.
M.G. Eichhorn et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 616–619 [7] C.G. Morovic, F. Berwart, J. Varas, Craniofacial anomalies of the amniotic band syndrome in serial clinical cases, Plast. Reconstr. Surg. 113 (2004) 1556–1562. [8] J.K. Muraskas, J.F. McDonnell, R.J. Chudik, K.E. Salyer, L. Glynn, Amniotic band syndrome with significant orofacial clefts and disruptions and distortions of craniofacial structures, J. Pediatr. Surg. 38 (2003) 635–638. [9] A. Richieri-Costa, R.J. Gorlin, Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity, Am. J. Med. Genet. 53 (1994) 222–226. [10] B.J. Mayou, O.M. Fenton, Oblique facial clefts caused by amniotic bands, Plast. Reconstr. Surg. 68 (1981) 675–681.
619
[11] B.L. Eppley, L. David, M. Li, C.A. Moore, A.M. Sadove, Amniotic band facies, J. Craniofac. Surg. 9 (1998) 360–365. [12] H.O. Olasoji, C. Tahir, A. Isa, An unusual bilateral oblique facial cleft in a newborn, Int. J. Pediatr. Otorhinolaryngol. 69 (2005) 999–1001. [13] M.C. Higginbottom, K.L. Jones, B.D. Hall, D.W. Smith, The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects, J. Pediatr. 95 (1979) 544–549. [14] M.S. Coady, M.H. Moore, K. Wallis, Amniotic band syndrome: the association between rare facial clefts and limb ring constrictions, Plast. Reconstr. Surg. 101 (1998) 640–649.
