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Atypical midline cleft with duplication of the metopic suture
ARTICLE IN PRESS Journal of Cranio-Maxillofacial Surgery (2007) 35, 81–83 r 2007 European Association for Cranio-Maxillofacial Surgery doi:10.1016/j.jcms.2006.10.005, available online at http://www.sciencedirect.com
Atypical midline cleft with duplication of the metopic suture O¨zhan C¸ELEBI˙LER1, Ahmet SO¨NMEZ1, Melike ERDI˙M1, Memet O¨ZEK2, Ayhan NUMANOG˘LU1 Department of Plastic & Reconstructive Surgery (Head: Prof. Ayhan Numanog˘lu, M.D.); 2Department of Neurosurgery, Division of Paediatric Neurosurgery (Head: Prof. Memet O¨zek, M.D.), Marmara University, University Hospital, Istanbul, Turkey 1
SUMMARY. Introduction: In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. Purpose: In this report, a case of median craniofacial dysraphia is described. Patient: At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT and MRI revealed: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. Conclusion: The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity. r 2007 European Association for Cranio-Maxillofacial Surgery
Keywords: metopic suture duplication, median cleft face syndrome, median cleft
INTRODUCTION
CASE REPORT
In contrast to the common clefts of the lip, alveolus and palate, the rare or atypical clefts of the face may not be easy to define, and they may come in myriad patterns of clinical expression. The median craniofacial dysraphia is one of the most frequently observed atypical facial clefts, constituting about 37% of all atypical clefts (Ortiz-Monasterio et al., 1987). The anomaly is subdivided into those involving a deficiency in tissue (hypoplasia, holoprosencephaly), and those in which there is an excess intervening tissue (hyperplasia) (Kawamoto, 1990; Kawamoto and Patel, 1998). Therefore, the clinical presentation extends across a broad range from tissue deficiency to tissue excess. Those cases with tissue excess and hyperplasia are called the median cleft face syndrome according to DeMyer (1967). The cleft corresponds to number 0–14 craniofacial cleft, according to Tessier (1976) and Kawamoto (1976). The clinical presentation may include, orbital hypertelorism, V-shaped frontal hairline, bifid cranium, bifid nose, thickened or duplicated anterior nasal spine and nasal septum, median cleft of the upper lip (premaxilla and palate). In this report, a case of median craniofacial dysraphia of the hyperplasia type is presented. This case differs from similar cases in two aspects: First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had bilateral clefts of lip in contrast to the expected median cleft lip deformity.
The patient was born by spontaneous vaginal delivery at term, as the first child of unrelated parents and weighed 3000 g. He was admitted to this clinic at 3 months of age. At presentation, he had bilateral complete clefts of lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum (Fig. 1). Lower limb spasticity was noted, but no other physical anomaly. Craniofacial 3-D CT and MRI scans revealed bilateral cleft lip, alveolus and palate; a duplicated metopic suture which ended at the wide anterior fontanel; orbital hypertelorism; a midline cranial cleft that ended just superior to the nasal dorsum; a frontoethmoidal encephalocoele and holoprosencephaly (Fig. 2). Bilateral cleft lip repairs were performed at seventh months. Together with the paediatric neurosurgeon the encephalocoele was repaired and the nasal horn excised at the age of nine months. In this operation, a bifrontal craniotomy was performed, and the superior orbital rim was removed. Surgical exploration confirmed the presence of two metopic sutures, which had already been diagnosed preoperatively by 3-D CT. There were two paramedian suture lines arising on each side of the median cleft from the superomedial orbital rims extending to the anterior fontanel. During resection of the dorsal bony nasal horn, it was noticed that the nasal septum was duplicated and the horn was extending to the cranial cavity through a bony cleft at the midline (Fig. 3). After excision of 81
ARTICLE IN PRESS 82 Journal of Cranio-Maxillofacial Surgery
Fig 1 – Male patient (3 months old), with bilateral cleft lip, alveolus and palate, a wide nose with a horn on its dorsum and telecanthus.
the frontoethmoidal encephalocoele, the anterior cranial fossa was repaired with a galeal flap. The cleft palate was repaired at the age of 16 months. The patient is now 8 years old, with moderate mental retardation and can only walk using an orthosis because of the spasticity of the lower limbs (Fig. 4).
DISCUSSION The presented case with multiple facial anomalies including bilateral complete clefts of the lip, alveolus and palate, broad nose with a dorsal horn, duplicated nasal septum, frontoethmoidal encephalocoele, hypertelorism and double metopic suture, is most likely to be median cleft face syndrome (DeMyer, 1967). The components of this syndrome include: bifid cranium; hypertelorism; median cleft nose; median cleft lip and premaxilla. DeMyer proposed that if any two or more of these components are present, the median cleft face syndrome diagnosis is justified. In his report of 25 cases, median cleft nose and hypertelorism was the common denominator, but 18 of them did not have any involvement of lip, premaxilla or palate. Whilst this correlates with the clinical picture in this case, there were additional components that deserve further discussion. A median cleft lip is a classical component of the median cleft face syndrome. However, the case presented had a bilateral complete cleft lip, alveolus and palate, instead of a median cleft. The explanation for this would be the simultaneous presentation of the median cleft face syndrome with the common type of complete cleft lip, alveolus and palate of the face. Neither DeMyer nor the other investigators (Millard and Williams, 1968; Sedano et al., 1970) who made a literature review and classified the median clefts have reported such a simultaneous presentation. The most widely accepted theory of common cleft lip embry-
Fig 2 – Same, 3-D cranial CT (a) and MRI (b) demonstrating metopic suture duplication, orbital hypertelorism, bilateral cleft lip, alveolus and palate as well as frontoethmoidal encephalocoele.
ogenesis is failure of fusion of the medial nasal prominence with the lateral nasal prominence and the maxillary prominence (Johnston et al., 1990; Kawamoto and Patel, 1998). On the other hand, the median facial clefts are explained by imperfect union of the paired medial nasal prominences (Moore and Persaud, 1993). More severe forms, including median encephalocoeles, are thought to be due to an arrest in downward movement of the frontonasal prominence and thus to a residual lower position of the forebrain (Kawamoto, 1990). Thus, in the case presented, failure of fusion of the medial nasal prominences with the lateral nasal and the maxillary prominences must have occurred simultaneously with the arrest in
ARTICLE IN PRESS A typical midline cleft 83
(Figs. 2a and 3). We need further evidence of embryological development of cranial bones and sutures to speculate on the possible pathogenesis of this sutural duplication being a special variation of frontonasal hyperplasia. We are also not able to explain the possible consequences of this sutural duplication. CONCLUSION The presented case shows the characteristics of the median cleft face syndrome. However, the presence of a bilateral instead of a median cleft lip, and the presence of two metopic sutures are the unusual components that deserve particular attention. Fig 3 – Same, cranial extension of the dorsal nasal horn was into a bony midline cleft (arrow). Duplicated metopic sutures on both sides of the midline cleft.
Fig 4 – Same, at 8 years old.
downward movement of the median frontonasal prominence to produce bilateral cleft lips and nasal duplication with frontoethmoidal encephalocoele. The other important characteristic of the presented case is that the patient had two metopic sutures. Duplication of the septal cartilage or increased midline soft tissues are well known in midline facial clefts. However, to the best of our knowledge, no case of duplicated metopic suture has yet been presented in the literature. In intrauterine life, cranial bones are formed by intramembranous ossification and they show appositional growth. The metopic suture is between the paired frontal bones. The presented patient had two frontal bones, plus a third in the middle with two sutures separating these bones
References DeMyer W: The median cleft face syndrome. Neurology 17: 961–971, 1967 Johnston MC, Bronsky PT, Millicovsky G: Embryogenesis of cleft lip and palate. In: McCarthy JG (ed.), Plastic Surgery. Philadelphia: Saunders, 2526–2542, 1990 Kawamoto HK: The kaleidoscopic world of rare craniofacial clefts: order out of chaos (Tessier classification). Clin Plast Surg 3: 529–572, 1976 Kawamoto Jr. HK: Rare craniofacial clefts. In: McCarthy JG (ed), Plastic Surgery. Philadelphia: Saunders, 2922–2944, 1990 Kawamoto Jr. HK, Patel PKK: Atypical facial clefts. In: Bentz ML (ed.), Pediatric Plastic Surgery. Connecticut: Appleton & Lange, 177–188, 1998 Millard DR, Williams S: Median clefts of the upper lip. Plast Reconstr Surg 42: 4–14, 1968 Moore KL, Persaud TVN: The branchial or pharyngeal apparatus. In: Moore KL, Persaud TVN (eds), The Developing Human, Clinically Oriented Embryology. Philadelphia: Saunders, 216–222, 1993 Ortiz-Monasterio F, Fuente del Campo A, Dimopulos A: Nasal clefts. Ann Plast Surg 18: 377–397, 1987 Sedano HO, Cohen MM, Jirasek J, Gorlin RJ: Frontonasal dysplasia. J Pediatrics 76: 906–913, 1970 Tessier P: Anatomical classification of facial, craniofacial and latero-facial clefts. J Maxillofac Surg 4: 69–92, 1976
Dr. Ahmet SO¨NMEZ M.D. Marmara U¨niversitesi Hastanesi Plastik ve Rekonstru¨ktif Cerrahi A.D. Tophaneliog˘lu Cad. 13/15 Altunizade/I˙stanbul Turkey Tel.: +90 532 2618337 Fax: +90 216 3267722 E-mail: [email protected] Paper received 11 October 2005 Accepted 16 October 2006
Atypical midline cleft with duplication of the metopic suture O¨zhan C¸ELEBI˙LER1, Ahmet SO¨NMEZ1, Melike ERDI˙M1, Memet O¨ZEK2, Ayhan NUMANOG˘LU1 Department of Plastic & Reconstructive Surgery (Head: Prof. Ayhan Numanog˘lu, M.D.); 2Department of Neurosurgery, Division of Paediatric Neurosurgery (Head: Prof. Memet O¨zek, M.D.), Marmara University, University Hospital, Istanbul, Turkey 1
SUMMARY. Introduction: In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. Purpose: In this report, a case of median craniofacial dysraphia is described. Patient: At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT and MRI revealed: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. Conclusion: The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity. r 2007 European Association for Cranio-Maxillofacial Surgery
Keywords: metopic suture duplication, median cleft face syndrome, median cleft
INTRODUCTION
CASE REPORT
In contrast to the common clefts of the lip, alveolus and palate, the rare or atypical clefts of the face may not be easy to define, and they may come in myriad patterns of clinical expression. The median craniofacial dysraphia is one of the most frequently observed atypical facial clefts, constituting about 37% of all atypical clefts (Ortiz-Monasterio et al., 1987). The anomaly is subdivided into those involving a deficiency in tissue (hypoplasia, holoprosencephaly), and those in which there is an excess intervening tissue (hyperplasia) (Kawamoto, 1990; Kawamoto and Patel, 1998). Therefore, the clinical presentation extends across a broad range from tissue deficiency to tissue excess. Those cases with tissue excess and hyperplasia are called the median cleft face syndrome according to DeMyer (1967). The cleft corresponds to number 0–14 craniofacial cleft, according to Tessier (1976) and Kawamoto (1976). The clinical presentation may include, orbital hypertelorism, V-shaped frontal hairline, bifid cranium, bifid nose, thickened or duplicated anterior nasal spine and nasal septum, median cleft of the upper lip (premaxilla and palate). In this report, a case of median craniofacial dysraphia of the hyperplasia type is presented. This case differs from similar cases in two aspects: First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had bilateral clefts of lip in contrast to the expected median cleft lip deformity.
The patient was born by spontaneous vaginal delivery at term, as the first child of unrelated parents and weighed 3000 g. He was admitted to this clinic at 3 months of age. At presentation, he had bilateral complete clefts of lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum (Fig. 1). Lower limb spasticity was noted, but no other physical anomaly. Craniofacial 3-D CT and MRI scans revealed bilateral cleft lip, alveolus and palate; a duplicated metopic suture which ended at the wide anterior fontanel; orbital hypertelorism; a midline cranial cleft that ended just superior to the nasal dorsum; a frontoethmoidal encephalocoele and holoprosencephaly (Fig. 2). Bilateral cleft lip repairs were performed at seventh months. Together with the paediatric neurosurgeon the encephalocoele was repaired and the nasal horn excised at the age of nine months. In this operation, a bifrontal craniotomy was performed, and the superior orbital rim was removed. Surgical exploration confirmed the presence of two metopic sutures, which had already been diagnosed preoperatively by 3-D CT. There were two paramedian suture lines arising on each side of the median cleft from the superomedial orbital rims extending to the anterior fontanel. During resection of the dorsal bony nasal horn, it was noticed that the nasal septum was duplicated and the horn was extending to the cranial cavity through a bony cleft at the midline (Fig. 3). After excision of 81
ARTICLE IN PRESS 82 Journal of Cranio-Maxillofacial Surgery
Fig 1 – Male patient (3 months old), with bilateral cleft lip, alveolus and palate, a wide nose with a horn on its dorsum and telecanthus.
the frontoethmoidal encephalocoele, the anterior cranial fossa was repaired with a galeal flap. The cleft palate was repaired at the age of 16 months. The patient is now 8 years old, with moderate mental retardation and can only walk using an orthosis because of the spasticity of the lower limbs (Fig. 4).
DISCUSSION The presented case with multiple facial anomalies including bilateral complete clefts of the lip, alveolus and palate, broad nose with a dorsal horn, duplicated nasal septum, frontoethmoidal encephalocoele, hypertelorism and double metopic suture, is most likely to be median cleft face syndrome (DeMyer, 1967). The components of this syndrome include: bifid cranium; hypertelorism; median cleft nose; median cleft lip and premaxilla. DeMyer proposed that if any two or more of these components are present, the median cleft face syndrome diagnosis is justified. In his report of 25 cases, median cleft nose and hypertelorism was the common denominator, but 18 of them did not have any involvement of lip, premaxilla or palate. Whilst this correlates with the clinical picture in this case, there were additional components that deserve further discussion. A median cleft lip is a classical component of the median cleft face syndrome. However, the case presented had a bilateral complete cleft lip, alveolus and palate, instead of a median cleft. The explanation for this would be the simultaneous presentation of the median cleft face syndrome with the common type of complete cleft lip, alveolus and palate of the face. Neither DeMyer nor the other investigators (Millard and Williams, 1968; Sedano et al., 1970) who made a literature review and classified the median clefts have reported such a simultaneous presentation. The most widely accepted theory of common cleft lip embry-
Fig 2 – Same, 3-D cranial CT (a) and MRI (b) demonstrating metopic suture duplication, orbital hypertelorism, bilateral cleft lip, alveolus and palate as well as frontoethmoidal encephalocoele.
ogenesis is failure of fusion of the medial nasal prominence with the lateral nasal prominence and the maxillary prominence (Johnston et al., 1990; Kawamoto and Patel, 1998). On the other hand, the median facial clefts are explained by imperfect union of the paired medial nasal prominences (Moore and Persaud, 1993). More severe forms, including median encephalocoeles, are thought to be due to an arrest in downward movement of the frontonasal prominence and thus to a residual lower position of the forebrain (Kawamoto, 1990). Thus, in the case presented, failure of fusion of the medial nasal prominences with the lateral nasal and the maxillary prominences must have occurred simultaneously with the arrest in
ARTICLE IN PRESS A typical midline cleft 83
(Figs. 2a and 3). We need further evidence of embryological development of cranial bones and sutures to speculate on the possible pathogenesis of this sutural duplication being a special variation of frontonasal hyperplasia. We are also not able to explain the possible consequences of this sutural duplication. CONCLUSION The presented case shows the characteristics of the median cleft face syndrome. However, the presence of a bilateral instead of a median cleft lip, and the presence of two metopic sutures are the unusual components that deserve particular attention. Fig 3 – Same, cranial extension of the dorsal nasal horn was into a bony midline cleft (arrow). Duplicated metopic sutures on both sides of the midline cleft.
Fig 4 – Same, at 8 years old.
downward movement of the median frontonasal prominence to produce bilateral cleft lips and nasal duplication with frontoethmoidal encephalocoele. The other important characteristic of the presented case is that the patient had two metopic sutures. Duplication of the septal cartilage or increased midline soft tissues are well known in midline facial clefts. However, to the best of our knowledge, no case of duplicated metopic suture has yet been presented in the literature. In intrauterine life, cranial bones are formed by intramembranous ossification and they show appositional growth. The metopic suture is between the paired frontal bones. The presented patient had two frontal bones, plus a third in the middle with two sutures separating these bones
References DeMyer W: The median cleft face syndrome. Neurology 17: 961–971, 1967 Johnston MC, Bronsky PT, Millicovsky G: Embryogenesis of cleft lip and palate. In: McCarthy JG (ed.), Plastic Surgery. Philadelphia: Saunders, 2526–2542, 1990 Kawamoto HK: The kaleidoscopic world of rare craniofacial clefts: order out of chaos (Tessier classification). Clin Plast Surg 3: 529–572, 1976 Kawamoto Jr. HK: Rare craniofacial clefts. In: McCarthy JG (ed), Plastic Surgery. Philadelphia: Saunders, 2922–2944, 1990 Kawamoto Jr. HK, Patel PKK: Atypical facial clefts. In: Bentz ML (ed.), Pediatric Plastic Surgery. Connecticut: Appleton & Lange, 177–188, 1998 Millard DR, Williams S: Median clefts of the upper lip. Plast Reconstr Surg 42: 4–14, 1968 Moore KL, Persaud TVN: The branchial or pharyngeal apparatus. In: Moore KL, Persaud TVN (eds), The Developing Human, Clinically Oriented Embryology. Philadelphia: Saunders, 216–222, 1993 Ortiz-Monasterio F, Fuente del Campo A, Dimopulos A: Nasal clefts. Ann Plast Surg 18: 377–397, 1987 Sedano HO, Cohen MM, Jirasek J, Gorlin RJ: Frontonasal dysplasia. J Pediatrics 76: 906–913, 1970 Tessier P: Anatomical classification of facial, craniofacial and latero-facial clefts. J Maxillofac Surg 4: 69–92, 1976
Dr. Ahmet SO¨NMEZ M.D. Marmara U¨niversitesi Hastanesi Plastik ve Rekonstru¨ktif Cerrahi A.D. Tophaneliog˘lu Cad. 13/15 Altunizade/I˙stanbul Turkey Tel.: +90 532 2618337 Fax: +90 216 3267722 E-mail: [email protected] Paper received 11 October 2005 Accepted 16 October 2006