Professional Documents
Culture Documents
50 Cases
Yoshiaki Sakamoto, M.D., Junpei Miyamoto, M.D., Hideo Nakajima, M.D., Kazuo Kishi, M.D.
Proboscis lateralis is a rare congenital anomaly related to Recently, we reported a new case of proboscis lateralis
a facial fusion defect. It occurs in fewer than 1 of every with median cleft lip (Fig. 1) (Sakamoto et al., 2010). We
1,000,000 live births (English, 1988). It frequently appears noticed that although the classification scheme is useful, it
with holoprosencephaly, as shown in DeMyer’s classifica- has two problems. The first is that the scheme does not take
tion (Table 1) (DeMyer et al., 1964) . holoprosencephaly into account, although it is often
Boo-Chai classified proboscis lateralis into four groups important to distinguish holoprosencephaly from other
according to the associated anomalies (Table 2) (Boo-Chai, cases with good prognosis. The second problem is that the
1985). Group I consists of a normal nose with proboscis groups are not completely classified embryologically.
lateralis and is the least common type. In group II, nasal Therefore, a clearer and more comprehensive classifica-
abnormalities accompany the proboscis on the same side, tion scheme is needed in order to take into account the
with no other anomalies. Group III is the most common clinical complexities and embryology of proboscis lateralis.
type, in which eye and/or adnexial defects occur with the
ipsilateral nasal defects and proboscis. In group IV, there is MATERIALS AND METHODS
a cleft lip and/or palate in addition to the nasal and ocular
defects. We reviewed all cases of proboscis lateralis reported
in English through 2009. Hypertelorism is one of the
distinctive features of holoprosencephaly. Boo-Chai (1985)
Dr. Sakamoto is Assistant Professor, Dr. Miyamoto is Assistant
Professor, Dr. Nakajima is Associate Professor, and Dr. Kishi is
did not include intercanthal distance as a classification
Professor, Department of Plastic and Reconstructive Surgery, Keio item, and we added this as a variable. When there was a
University School of Medicine, Tokyo, Japan. mention of intercanthal distance for the case in the
Submitted June 2010; Accepted November 2010. literature, we adopted it.
Address correspondence to: Dr. Yoshiaki Sakamoto, Department of On the other hand, if there was no mention, we reviewed
Plastic and Reconstructive Surgery, Keio University School of Medicine,
35 Shinanomachi, Shinjuku-ward, Tokyo 160-8582, Japan. E-mail
intercanthal distance based on the frontal photo of the
ysakamoto@z8.keio.jp. patient. Diagnosing hypotelorism and hypertelorism was
DOI: 10.1597/10-127.1 based not only on clinical visual impression but also the
201
202 Cleft Palate–Craniofacial Journal, March 2012, Vol. 49 No. 2
1. Gitlin and Behar (1960) Infant M III Bilateral Died immediately after birth
2. Schinzel et al. (1984) Infant M III Midline Stillbirth, cyclopia
3. Infant Unknown II Midline Died 2 h after birth
4. Infant F III Midline Died shortly after birth, cyclopia
5. Infant M III Midline Stillbirth
6. Nyberg et al. (1987) Fetus Unknown III Midline Termination of pregnancy, cyclopia
7. Infant Unknown III Midline Stillbirth
8. Souza et al. (1990) Infant F III Midline Stillbirth
9. Galguera et al. (1996) Infant M IV Midline Died 27 d after birth, cyclopia
10. Chen et al. (1999) Fetus Unknown III Midline Termanation of pregnancy, cyclopia
11. Situ et al. (2002) Fetus M III Midline Stillbirth, cyclopia
12. Granto et al. (2005) Infant F III Midline Died 9 mo after birth
13. Infant M III Midline Died 40 d after birth
14. Cho et al. (2005) Fetus Unknown III Midline Termanation of pregnancy, cyclopia
15. Boahene et al. (2005) Fetus M IV Midline Termanation of pregnancy, cyclopia
16 Lee et al. (2006) Fetus F II Midline Termanation of pregnancy
17. Capobianco et al. (2007) Infant M III Midline Died just after birth. cyclopia
* Group according to Boo-Chai’s Classification.
{ Position of proboscis.
al., 2010). Therefore, the six cases with cleft lip/palate were The other 10 cases associated with a visible encephalocele
compatible with Boo-Chai group IV, and the other 11 were had encephalopathy and most died at an early age; long-
compatible with group III (Table 5). Eight of 11 cases term survival cases suffered developmental delay and
classified as group III and four of six cases classified as mental retardation (Table 6) (Antoniades and Baraister,
group IV had a single nostril. The other five cases had two 1989; Gilbert-Barness et al., 2001; Harada and Muraoka,
nostrils, but the nostrils on their affected side were 2001; Guion-Almeida et al., 2007). Some of these were
micronostrils (Kirkpatrick, 1970; Bowe, 1986; Guion- diagnosed as cerebro-oculo-nasal syndrome (Chen et al.,
Almeida et al., 2007). 1999).
204 Cleft Palate–Craniofacial Journal, March 2012, Vol. 49 No. 2
Group Interorbital Distance Nose Eyes and Adnexa Cleft Lip/Palate Cranium and Brain
FIGURE 2 In the fourth week, a pair of nasal placodes developed on the frontonasal prominence. Mesenchyme proliferates to produce horseshoe-shaped
elevations that are medial nasal prominence and lateral nasal prominence. The medial nasal prominences fuse to form the columella, and ala nasi is formed from
the lateral nasal prominences. Each maxillary prominence begins to fuse with the globular prominence to form the philtrum.
Sakamoto et al., NEW CLASSIFICATION SCHEME OF PROBOSCIS LATERALIS 205
FIGURE 3 The proposed hypothesis regarding the genesis of various patterns of proboscis lateralis.
theories could not identify or explain all cases. Therefore, begins at an early embryonic stage, at approximately the
we propose a new hypothesis of how proboscis lateralis fourth week. The five facial primordia appear as promi-
develops based on our new classification scheme. nences: the single frontonasal prominence, the paired
To consider the formation of this abnormality it is first maxillary prominences, and the paired mandibular prom-
necessary to outline the development of the face. This inences. These five facial prominences are active centers of
206 Cleft Palate–Craniofacial Journal, March 2012, Vol. 49 No. 2
growth in the underlying mesenchyme. By the end of the severe. We believe our classification scheme to be not only
fourth week, a pair of nasal placodes, which are an elliptical convenient for clinical application but also embryologically
thickening of the surface ectoderm, has developed on the accurate.
inferolateral parts of the frontonasal prominence. Mesen-
chyme in the margins of the placodes proliferates, REFERENCES
producing horseshoe-shaped elevations that are the medial
and lateral nasal prominences. As a result, the nasal Abou-Elhamd KE. Proboscis lateralis: a report of two cases. Int J Pediatr
placodes lie in depressions called nasal pits. These pits are Otorhinolaryngol. 2004;68:503–505.
Acarturk S, Kivanc K, Atilla E, Sekucoglu T. Proboscis lateralis:
the nasal sacs, the primordia of the anterior nostrils and evaluation of the anomaly and a review of two cases. Plast Reconstr
nasal cavities (Fig. 2). During expansion of the nasal sacs, Surg. 2006;117:140e–146e.
the medial nasal prominences fuse to form the columella. Antoniades K, Baraister M. Proboscis lateralis: a case report. Teratology.
By the end of the sixth week, each maxillary prominence 1989;40:193–197.
has begun to merge with the globular prominence to form Belet N, Belet U, Tekat A, Küçüködük U. Proboscis lateralis: radiological
evaluation. Pediatr Radiol. 2002;32:99–101.
the philtrum, the intermaxillary segment of the upper jaw, Boahene DK, Bartley GB, Clay RP, Thompson DM. Heminasal
and the primary palate. Also, the lateral nasal prominences proboscis with associated microphthalmos and encephalocele.
form the ala nasi. By week 14, facial development is J Craniofac Surg. 2005;16:300–306.
complete (Moore, 2003). Boo-Chai K. The proboscis lateralis—A 14-year follow-up. Plast Reconstr
The following is our hypothesis of the development of Surg. 1985;75:569–577.
Bowe JJ. Lateral nasal proboscis. Ann Plast Surg. 1986;16:250–252.
proboscis lateralis based on our classification (Fig. 3). Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole
First, in group II, it is supposed that during the S. Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus
proliferation of mesenchymal cells in the medial nasal with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis
prominence, a fissure or concavity appears accidentally in and review of the literature. Arch Gynecol Obstet. 2007;275:385–387.
this area, and thereby divides this medial nasal prominence Chen CP, Devriendt K, Lee CC, Chen WL, Wang W, Wang TY. Prenatal
diagnosis of partial trisomy 3p(3p23Rpter) and monosomy
into two segments. The medial part merges into the 7q(7q36Rqter) in a fetus with microcephaly alobar holoprosencephaly
unaffected side and forms the columella. However, the and cyclopia. Prenat Diagn. 1999;19:986–989.
lateral nasal prominence of the affected side merges into the Cho FN, Kan YY, Chen SN, Lee TC, Hsu TJ, Hsu PH. Prenatal
adjacent lateral part and forms a proboscis lateralis instead diagnosis of cyclopia and proboscis in a fetus with normal chromo-
of ala nasi. The development of the maxillary prominence is some at 13 weeks of gestation by three-dimensional transabdominal
sonography. Prenat Diagn. 2005;25:1059–1060.
normal in this group. Dasgupta G, Kacker SK, Bhan AK. Proboscis. J Laryngol Otol.
Groups III and IV are associated with the degree of the 1971;85:401–406.
hypoplasia of the maxillary prominence advocated by D’assumpção EA. Proboscis lateralis. Case report. Plast Reconstr Surg.
Rontal and Duritz (1977). 1975;55:494–497.
The development of group I is different from other DeMyer W, Zeman W, Paler CG. The face predict the brain; diagnostic
significance of median facial anomalies for holoprosencephaly
groups, and its development has been proposed to resemble (arhinencephaly). Pediatrics. 1964;34:256–263.
that of a double nose (Nakamura and Onizuka, 1986). The DeMyer W. The median cleft face syndrome—differential diagnosis of
pair of nasal placodes is formed in a vertical arrangement cranium bifidum occultum, hypertelorism, and median cleft nose, lip
on one side. The lower placode adheres to the other side and palate. Neurology. 1967;17:961–971.
and forms a normal nose; whereas, the upper placode English GM. Congenital anomalies of the nose, nasopharynx and
paranasal sinuses. Otolaryngology. Vol. 2. Philadelphia: Lippincott;
develops into a proboscis lateralis because there is nothing 1988:1–39.
to which to adhere on that side. Such a development is Eroğlu L, Uysal OA. Proboscis lateralis: report of two cases. Br J Plast
likely to be very rare, which explains why group I has the Surg. 2003;56:704–708.
least number of cases. Evereklioglu C, Doganay S, Er H, Gunduz A, Tercan M, Balat A,
If there is a swelling like a tumor or encephalocele at the Cumurcu T. Craniofacial anthropometry in a Turkish population.
Cleft Palate Craniofac J. 2002;39:208–218.
center, growth of the prominences is disturbed. Each Farkas LG, Munro IR. Anthropometric Facial Proportions in Medicine.
prominence fuses in various forms dictated by the balance Springfield, IL: Charles C Thomas; 1987:208.
of right and left growth, and sometimes proboscis lateralis Galguera M, Malave L, Leon A. Holoprosencephaly with proboscis.
appears as a case in group V. Gynecol Obstet Invest. 1996;42:70–72.
Group VI (type I or II holoprosencephaly) is caused by a Gilbert-Barness E, Debich-Spicer D, Cohen MM Jr, Opitz JM. Evidence
for the ‘‘midline’’ hypothesis in associated defects of laterality forma-
median deficiency of tissue, including aplasia of the median tion and multiple midline anomalies. Am J Med Genet. 2001;101:
nasal prominence. As a result, lateral nasal prominences 382–387.
adhere to each other and form a proboscis lateralis Gitlin G, Behar AJ. Meningeal angiomatosis, arhinencephaly, agenesis
presenting with hypotelorism. of the corpus callosum and hamartoma of brain, with neoplasia, in
an infant having bilateral nasal proboscis. Acta Anat (Basel).
Moreover, the definition of ocular anomalies become
1960;41:56–79.
clearer by taking into account intercanthal distance. Granto L, Pinto CF, de Castro NP Jr, Rocha A, Bellido Rios OA.
Intercanthal distance increases from group I to group IV, Holoprosencephaly—report of two cases. Int J Pediatr Otorhinola-
and other accompanying deformities also become more ryngol. 2005;69:1563–1568.
Sakamoto et al., NEW CLASSIFICATION SCHEME OF PROBOSCIS LATERALIS 207
Guion-Almeida ML, Machado-Paula LA, Richieri-Costa A. Newly Nakamura T, Onizuka T. A case of supernumerary nostril. Plast Reconstr
recognized syndrome with heminasal aplasia and ocular anomalies or Surg. 1986;80:436–441.
wider spectrum of heminasal aplasia/atypical clefting syndrome? National Institutes of Health. Research Services Branch of the National
Am J Med Genet A. 2004;129:156–161. Institute of Mental Health. NIH Image web site. Available at http://
Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Cerebro-oculo- rsb.info.nih.gov/nih-image/. Accessed January 14, 2010.
nasal syndrome: 13 new Brazilian cases. Am J Med Genet A. Nyberg DA, Mack LA, Bronstein A. Hirsch J, Pagon, RA. Holopros-
2007;143:3252–3266. encephaly: prenatal sonographic diagnosis. Am J Roentgenol. 1987;
Harada T, Muraoka M. Proboscis lateralis: a rare bilateral case. Ann Plast 149:925–928.
Surg. 2001;47:350–351. Rontal M, Duritz G. Proboscis lateralis: case report and embryologic
Igarashi M, Kajii T. Normal values for physical parameters of the analysis. Laryngoscope. 1977;87:996–1006.
head, face and hand in Japanese children. Jpn J Hum Genet. 1988; Sakamoto Y, Nakajima T, Miyamoto J. A rare case of proboscis lateralis
33:9–31. with median cleft lip. Cleft Palate Craniofac J. 2010;47:553–556.
Jost G, Mookherjee R, Dionyssopoulos A. Proboscis lateralis: treatment Schinzel A, Savoldelli G, Briner J, Schmid W. Prenatal ultrasonographic
of two atypical cases. Aesthet Plast Surg. 1995;19:165–168. diagnosis of holoprosencephaly. Two cases of cebocephaly and two of
Kayikçioğlu A. Floating proboscis. Plast Reconstr Surg. 2000;105: cyclopia. Arch Gynecol. 1984;236:47–53.
1894–1895. Situ D, Reifel CW, Smith R, Lyons GW, Temkin R, Harper-Little C,
Kirkpatrick TJ. Lateral nasal proboscis. J Laryngol Otol. 1970;84:83. Pang SC. Investigation of a cyclopic, human, term fetus by use of
Lee GS, Hur SY, Shin JC, Kim SP, Kim SJ. Prenatal diagnosis of magnetic resonance imaging (MRI). J Anat. 2002;200:431–438.
holoprosencephaly with ethmocephaly via 3-dimensional sonography. Souza JP, Siebert JR, Beckwith JB. An anatomic comparison of
J Clin Ultrasound. 2006;34:306–308. cebocephaly and ethmocephaly. Teratology. 1990;42:347–357.
McLaren LR. A case of cleft lip and palate with polypoid nasal tubercle. Thorne MC, Ruiz RE, Carvalho J, Lesperance MM. Proboscis lateralis:
Br J Plast Surg. 1955;8:57–59. case report and review. Arch Otolaryngol Head Neck Surg.
Moore KL. The Developing Human: Clinically Oriented Embryology. 7th 2007;133:1051–1053.
ed. Philadelphia: Saunders; 2003:221–230. Uğurlu K, Karşidag S, Ozçelik D, Sadikoğlu B, Baş L. Repair of
Mutaf M, Isik D, Büyükgüral B. An unusual congenital facial anomaly: proboscis lateralis. Scand J Plast Reconstr Surg Hand Surg. 2005;39:
erectile proboscis-like structure. Ann Plast Surg. 2006;57:107–109. 184–187.