Oblique Facial Cleft Syndrome

(1)

Oblique Facial Cleft Syndrome

Oblique facial clefts are extremely rare congenital anomalies occurring in about 1/100 to 12/1000 of facial clefts.

GENETICS/BASIC DEFECTS

1. Genetic heterogeneity a. Sporadic in most cases

b. A disruptive event resulting from amniotic band rupture sequence considered as a main etiological agent

i. 26% of nonsyndromal craniofacial cleft display congenital limb anomalies

ii. 13% of nonsyndromal craniofacial cleft show evidence of limb ring constrictions

c. Occasional association with malformation syndrome (e.g., Fryns anophthalmia-microphthalmia-oblique clefting syndrome)

d. Rare autosomal recessive inheritance 2. Classification of facial clefts

a. American Association for Cleft Palate Rehabilitation (1962) divided facial clefts into four major groups according to the anatomic location:

i. Mandibular process clefts ii. Naso-ocular clefts iii. Oro-ocular clefts

iv. Oro-aural clefts

b. Boo-Chai (1970) proposed a subdivision of the oro- ocular group into:

i. Medial (Type I) ii. Lateral (Type II)

c. Tessier (1976) presented an anatomic classification of the facial clefts by using numbers 0–14 anticlockwise to point the location of the cleft when the orbit is used as the central point

i. Proven validity in analyzing complex facial deformities

ii. Careful examination in confirming the diagnosis and in managing the patients

3. Oblique clefts

a. Considered as late or secondary defects resulting from outgrowth of one or more bone centers in mem- branous bones

b. Including certain types of Tessier classification (1976): oblique clefts corresponding to the numbers 3 to 6 distally or “south-wards” and 8 to 11 proximally or “northwards” from the orbit in the extreme forms c. Arbitrary classification in some instances

d. Presence of intermediate forms of facial clefts

CLINICAL FEATURES

1. Clinical variability 2. Oblique facial clefts

a. Naso-ocular clefts

i. Whole stretch from the lip through the nose to the eyelid and orbit

ii. Nasolacrimal duct always involved iii. Defective and upwardly dislocated ala nasi b. Oro-ocular clefts

i. Type I (medial): cleft medial to infra-orbital region of the naso-labial groove to end in the inner canthus or the lower eyelid

ii. Type II (lateral): cleft extending from the angle of the mouth upwards to the orbit ending in the lateral canthus or in a coloboma in the mid-por- tion of the lower eyelid

iii. Twice as frequent as the naso-ocular types c. Bilateral clefts in 20–35% of cases

d. Presence of complete or incomplete forms

e. Possible involvement of palate and extending into the temporal region

3. Concordant clinical signs a. Short stature

b. Sparse eyebrows c. Sparse eyelashes d. Lower lid coloboma e. Abnormal nose

f. Involvement of the nasolacrimal duct g. Malar hypoplasia

4. Other variable clinical signs a. Mental retardation

b. Anophthalmia/microphthalmia

c. Hemimelia (possibly resulting from in utero vascular accident in some cases)

5. Associated anomalies a. Amniotic bands

i. Amniotic band affecting premaxillary-nasal- ocular areas of the midface producing oblique tissue disruptions

ii. Intrauterine amputation iii. Constriction rings

iv. Distal lymphedema v. Distal pseudosyndactyly

vi. Remnant of amniotic band still attached to the lesion b. CNS abnormalities

i. Encephalocele ii. Hydrocephaly c. Cutis aplasia congenita d. Talipes equinovarus

DIAGNOSTIC INVESTIGATIONS

1. Radiography for craniofacial anomalies

2. Three-dimensional CT scan for visualization of the extent and location of the cleft

3. MRI of the brain for CNS anomalies

4. Blood for chromosome analysis to rule out chromosome etiology

751

(2)

752 OBLIQUE FACIAL CLEFT SYNDROME

GENETIC COUNSELING

1. Recurrence risk a. Patient’s sib

i. Recurrence risk not increased since most cases are sporadic, especially in a case where amniotic band rupture sequence is considered to be the etiologic factor

ii. Recurrence risk possibly increased in occasional cases of autosomal recessive inheritance b. Patient’s offspring: not increased

2. Prenatal diagnosis: possible by ultrasonographic docu- menting oblique facial cleft associated with other common- ly associated anomalies (CNS anomaly, anophthalmia, and findings of amniotic band disruption sequence)

3. Management

a. Early orthopedic treatment

i. To achieve both the proper alignment of the maxillary segments and a reduction of cleft width in cases of unilateral cleft lip, alveolus, and palate

ii. Presurgical orthopedic devices to approximate the distorted segments and to facilitate lip closure in the treatment of maxillary clefts

b. Surgical repair of facial cleft i. General principle

a) Accurate approximation of each tissue layer b) Meticulous layer closure to prevent loss of anatomical continuity and a depressed scar along the site of the operative procedure c) Multiple Z-plasty when the repair crosses

lines of minimal skin tension or when there is loss of length

ii. Closure of the cleft and reconstruction of the underlying bony deficiencies at a very early age iii. Followed by subsequent correction of orbital

hypertelorism between the ages of 2–5 years iv. Followed by orthognathic correction of maxil-

lary and mandibular deformities in the teens c. Multidisciplinary approach to early intervention

REFERENCES

Boo-Chai K: The oblique facial cleft. A report of 2 cases and a review of 41 cases. Br J Plast Surg 23:352–359, 1970.

Boo-Chai K: The oblique facial cleft: a 20-year follow-up. Br J Plast Surg 43:355–358, 1990.

Butow KW, de Witt TW: Bilateral oblique facial cleft—tissue expansion with primary reconstruction. J Dent Assoc S Afr 45:507–511, 1990.

Chiong AT, Guevarra ES Jr, Zantua RV: Oblique facial cleft. Arch Otolaryngol 107:59–62, 1981.

Coady MSE, Moore MH, Wallis K: Amniotic band syndrome: the association between rare facial clefts and limb ring constrictions. Plast Reconstr Surg 101:640–648, 1998.

Dasouki M, Barr M Jr, Erickson RP, et al.: Translocation (1;22) in a child with bilateral oblique facial clefts. J Med Genet 25:427–431, 1988.

Darzi MA, Chowdri NA: Oblique facial clefts: a report of Tessier numbers 3, 4, 5, and 9 clefts. Cleft Palate Craniofacial J 30:414–415, 1993.

David DJ, Moore MH, Cooter RD: Tessier clefts revisited with a third dimen- sion. Cleft palate J 26:163–184, 1989.

Dey DL: Oblique facial clefts. Plast Reconstr Surg 52:258–263, 1973.

Ecker HA: An unusual bilateral oblique facial cleft: report of case. J Oral Surg 28:619–620, 1970.

Eppley BL, David L, Li M, et al.: Amniotic band facies. J Craniofac Surg 9:360–365, 1998.

Kara IG, Ocsel H: The Tessier number 5 cleft with associated extremity anomalies. Cleft Palate Craniofacial J 38:529–532, 2001.

Kawamoto HK: The kaleidoscopic world of rare craniofacial clefts: Order out of chaos (Tessier classification). Clin Plast Surg 5:529–572, 1976.

Kubaˇcek V, P˘enkava J: Oblique clefts of the face. Acta Chir Plast (Praha) 16:152–163, 1974.

MacKinnon CA, David DJ: Oblique facial clefting associated with unicoronal synostosis. J Craniofac Surg 12:227–231, 2001.

Mavili E, Gursu G, Ercal MD, et al.: Three cases of oblique facial cleft: etiology, tomographic evaluation and reconstruction. Clin Dysmorphol 1:229–234, 1992.

Mayou BJ, Fenton OM: Oblique facial clefts caused by amniotic bands. Plast Reconstr Surg 68:675–681, 1981.

Mishima K, Sugahara T, Mori Y, et al.: Three cases of oblique facial cleft.

J Craniomaxillofac Surg 24:372–377, 1996.

Miyajima K, Natsume N, Kawai T, et al.: Oblique facial cleft, cleft palate, and supernumerary teeth secondary to amniotic bands. Cleft Palate Craniofac J 31:483–486, 1994.

Ranta R, Rintala A: Oblique lateral oro-ocular facial cleft. Case report. Int J Oral Maxillofac Surg 17:186–189, 1988.

Richieri-Costa A, Gorlin RJ: Oblique facial clefts: report on 4 Brazilian patients.

Evidence for clinical variability and genetic heterogeneity. Am J Med Genet 53:222–226, 1994.

Rintala A, Leisti J, Liesmaa, et al.: Oblique facial clefts. Scand J Plast Reconstr Surg 14:291–297, 1980.

Rowsell AR: The amniotic band disruption complex. The pathogenesis of oblique facial clefts; an experimental study in the foetal rat. Br J Plast Surg 42:291–295, 1989.

Sakurai EH, Mitchell DF, Holmes LA: Bilateral oblique facial clefts and amniotic bands: a report of two cases. Cleft palate J 3:181–185, 1966.

Sano S, Tani T, Nishimura Y: Bilateral oblique facial cleft. Ann Plast Surg 11:434–437, 1983.

Schlenker JD, Ricketson G, Lynch JB: Classification of oblique facial clefts with microphthalmia. Plast Reconstr Surg 63:680–688, 1979.

Schweckendiek W: Nasal abnormalities in facial clefts. J Maxillofac Surg 4:141–149, 1974.

Stellzig A, Basdra EK, Muhling J, et al.: Early maxillary orthopedics in a child with an oblique facial cleft. Cleft Palate Craniofac J 34:147–150, 1997.

Tessier P: Anatomical classification of facial, cranio-facial and latero-facial clefts. J Maxillofac Surg 4:69–92, 1976.

Tolarová MM, Cervenka J: Classification and birth prevalence of Orofacial clefts. Am J Med Genet 75:126–137, 1998.

Tsur H, Winkler E, Kessler A: Oblique facial cleft with anophthalmia in a men- tally normal child. Ann Plast Surg 26:449–455, 1991.

Van der Meulen JC: Oblique facial clefts: pathology, etiology, and reconstruction. Plast Reconstr Surg 76:212–224, 1985.

Warburg M, Jensen H, Prause JU, et al.: Anophthalmia-microphthalmia- oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. Am J Med Genet 73:36–40, 1997.

Wilson LF, Musgrave RH, Garrett W, et al.: Reconstruction of oblique facial clefts. Cleft palate J 9:109–114, 1972.

Yang SS: ADAM sequence and innocent amniotic band: manifestations of early amnion rupture. Am J Med Genet 37:562–568, 1990.

Zimmer ET, Taub E, Sova Y, et al.: Tetra-amelia with multiple malformations in six male fetuses in one kindred. Eur J Pediatr 144:412–414, 1985.

(3)

OBLIQUE FACIAL CLEFT SYNDROME 753

Fig. 1. An infant with oblique facial cleft syndrome (at birth and post- operative) showing unilateral oro-ocular cleft with cleft beginning at the angle of the mouth and ending in a coloboma of the lower eyelid and corneal opacity.

Fig. 2. An infant with oblique facial cleft syndrome showing extensive unilateral oro-naso-ocular cleft and encephalocele.

(4)

754 OBLIQUE FACIAL CLEFT SYNDROME

Fig. 3. A newborn with oblique facial cleft syndrome associated with amniotic band syndrome and cutis aplasia congenita of the scalp showing bilateral frontonasal clefts, scalp defect, pseudotail, hypertelorism, anophthalmia, club hands, digital amputation, constriction bands, and an amniotic band still attached to the left finger. The infant also had hydrocephalus, atrial septal defect and clubfoot.