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2001-09-27-12 Answer to the case of the week #58 © Tawil http://www.thefetus.net/

Answer to case #58

September 7-27  2001

Marcos Tawil, MD, Norma Tello, MD

Acueducto Rio Hondo # 28/103, Lomas Virreyes, Mexico 11000 D.F.

This 32-year-mother, G3P2A0 has a history of multiple sclerosis controlled with steroids. Her previous two children are normal. These are 2D images. 

 

 

 

 

 

These are 3D images. If anyone has a doubt about the clinical value of 3D in facial anomalies, these images should dispel these doubts. The anomaly is symmetrical. This is the right side:

 

This is the left side

 

 

And the front:

 

 

 

Findings:

These images demonstrated:

  • a bilateral facial cleft that affect both lip commissures and extend to the ear,
  • micrognathia,
  • microglossia,
  • absence of inferior lip and deformity of pavilions auricular, as well as
  • polyhydramnios.

These findings were confirmed after birth:

 

The presence of a facial cleft could suggest an amniotic band syndrome and the findings of micrognathia and deformity of auricular pavilions could suggest Acrofacial dysostosis syndromes (also called Treacher Collins Franceschetti syndrome, and Mandibulofacial Dysostosis).

Amniotic band syndrome: is a rare malformation associated to fibrous bands that strangle or injure in utero one or several fetal parts, producing a deformation, malformation or a disruption of the fetal structures1,2. There are reports of many problems caused by bands, including: constriction rings around arms, legs and digits; swelling of the extremities distal to the point of constriction; amputation of digits, arms and legs; asymmetric facial; cleft, macrostomia, cephalocele; anencephaly; multiple joint contractures; pterygium; clubfeet, clubhands and pseudosyndactyly; microph­thal­mia, uveal coloboma, corneal metaplasia and unilateral chorio­retinal lacunae. Many times the amniotic band is not detected on the place of the amputation3. The appearance of this baby would be very atypical for an amniotic band syndrome because of the remarkable symmetry of the lesion and to a lesser extend because of the transverse nature of the cleft.

Treacher Collins-Franceschetti Syndrome: (also call Mandibulofacial dysostosis) is characterized by abnormalities of the first brachial arch. The findings are: inferior palpebral malformations, fissures, hypoplasia of the malar and jaw bone, auricular anomalies and anomalies of the external auditory meatus, cleft palate and deafness4. The ultrasound findings include: micrognathia, abnormal orbits with ocular fissures, zygomatic bone hypoplasia, hypoplastic malformation of ears with absence of auricular pavilions or auricles, palate cleft. The ultrasound diagnosis has been reported in several cases based on detection of micrognathia and other abnormalities of the face. The anomalies of the ear are also visible by ultrasound mainly when the external auditory conduit is malformed. The inheritance pattern is autosomal dominant, nevertheless, in 60% of the cases new mutations have been detected itself previously in non-affected families. The mutation of the gene in locus 5q32-33.1 is the responsible of most of the cases. This diagnosis can reasonably be excluded because of the position and size of the clefts.

Bilateral Macrostomia or bilateral transverse facial cleft type Tessier Number 7: In 1976 Paul Tessier described an anatomical detailed classification of facial clefts assigning numbers to the presentation sites, depending on their relation to the sagittal average line, some of these include, dysostosis to otomandibular, auriculo-branchial dysplasia, hemifacial and craniofacial microsomia, and otocraniocephalic syndrome.

 The Tessier classification.

Tessier developed a numerical classification, numbering the axes of the various clefts around the orbits in a counter-clock wise direction. Numbering starts from the “southbound” facial clefts and continues with the “northbound” cranial clefts. This numerical system is one simply of topographic description; it describes neither the structures involved nor the severity of involvement of each structure. The so-called clefts 0,1,and 2 follow a course that is medial to the canthus and, therefore, they do not pass thorough and do not disrupt the orbit itself. Similarly, the cleft 7 is a laterofacial cleft and does not have a course leading to or through the orbit

Cleft 0, or median craniofacial dysraphia. Its course is outlined from the anterior fontanelle through the frontal bone, crista galli, midline of the nose, columella, lip, and maxilla, and may actually involve the tongue, lower lip, and mandible. Its cranial extension is cleft 14. 

Cleft 1, or paramedian craniofacial dysraphia, courses through the frontal bone and the olfactory groove of the cribriform plate, between the nasal bone and the frontal process of the maxilla, and through the maxilla between the central and lateral incisors. Its cranial extensions is cleft 13.

Cleft 2, or paranasal cleft, is similar to cleft 1, but it is slightly more lateral. Its cranial extension is cleft 12.

Cleft 3, or oculonasal cleft, is a medial orbitomaxillary cleft. Its course runs through the lacrimal bone, the frontal process of the maxilla, and into the alveolus between the lateral incisor and the canine. The defect ends as a cleft lip. Its northbound continuation is cleft 11.

Cleft 4, or oculofacial 1 cleft, is a central orbitomaxillary cleft. The upper portion of its course is similar to that of cleft 3. It courses medially to the infraorbital nerve and through the maxillary sinus, causing exstrophy of the antral mucosa. It ends, as in cleft 3, between the lateral incisor and the canine.

Cleft 5, or oculofacial 2 cleft, is a very rare lateral orbitomaxillary cleft, the course of which runs through the orbital, floor, lateral to the infraorbital nerve and the maxillary sinus. The soft tissue deformities consist of a coloboma of lateral third of the lower lid, ending as a cleft of the lip slightly medial to the commissure.

Cleft 6 separates the maxilla from the malar bone. The corresponding soft-tissue deformities consist of a coloboma of the lower lid and a “sclerodermic” furrow of skin from the coloboma to the angle of the mandible.

Cleft 7 courses between the malar and the temporal bones. The zygomatic arch is usually absent. Cleft 7, however, may exist as pure macrostomia without any appreciable skeletal or ear deformity.

Cleft 8 is a frontozygomatic cleft extending to the greater sphenoidal wing. In the tissues there may either be a true cleft of the lateral canthus or a notch of the lower eyelid close to the canthus with dermatocele. Combinations of cleft 6,7, and 8, in varying degrees of severity, constitute the Teacher Collins syndrome.

Cleft 9 is an upper lateral orbital cleft of the superolateral orbital ridge-angle with a corresponding coloboma of the upper lid.

Cleft 10 is an upper central orbital cleft of the frontal bone, supraorbital ridge, and orbital rod. It could be associated with coloboma of the medial third of the upper lid and/or eyebrow.

Cleft 11 is an upper medial orbital cleft through the frontal bone, frontal sinus and lateral mass of the ethmoid, with is medial to the supraorbital neurovascular bundle.

 

The present case corresponds to a Tessier cleft # 7, which can be found with diverse names in the literature. It has an incidence of 1.8-2.5:10,000 deliveries. It is more common in boys than girls. The unilateral form is 6 times more common than bilateral one.

The anomaly has deformities of both the bony and soft tissue component. The importance of cleft #7 is that the malformation involves the ascending branch of the mandible and may be associated with facial paralysis. In spite of a bilateral defect, the lesion may be asymmetrical . The bilateral cleft are less common that the unilateral form and is usually symmetrical5,6,7,8,9. Another example of a less severe bilateral cleft 7


References


[1] Seedes JW, Cefalo RC, Herbert WN. Amniotic band syndrome. AM J Obstet Gynecol 1982;144:243-8

[2] Luebke HJ, Reiser CA, Pauli RM. Fetal disruptions: assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community-based stillbirth assessment program. Am J Med Genet 1990;36:56-72

[3] Bronshtein M, Zimmer EZ. Do amniotic bands amputate fetal organs? Ultrasound Obstet Gynecol 1997;10:309-11.

[4] Beryl R. Benacerraf, M.D. Ultrasound of Fetal Syndromes 1998; Churchill Livingstone p 117

[5] Adnan Uzunismail, Ali Ozdemir MD Plastic and reconstructive surgery, July,1995;96:l:224-225

[6] Wolfe Anthony S. MD. The influence of Paul Tessier on our current treatment of facial trauma, both in primary care and in the management of late sequelae. Clinics in Plastic Surgery Vol.24 No.3 July 1997.

[7] Georgiage G, Riefkohl R, Levin L: Plastic, maxillofacial and reconstructive surgery. 3rd edition Williams And Wilkins 1997

[8] Anastassov Y, Ghestem M, Martinot V, Pellerin P. Two patients with multiple facial clefts including cleft lip and palate. J Craniofac Surg. 1993 Jul;4(3):148-52.

[9] Stelnicki EJ, Hoffman W, Foster R, Lopoo J. Longaker M. The in utero repair of Tessier number 7 lateral facial clefts created by amniotic band-like compression. J Craniofac Surg. 1998 Nov;9(6):557-62

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