Bifid Nose Research Articles

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

BackgroundManitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and...

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences.

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These findings suggest that MFDH may be part of the spectrum of 22q11.2 deletion syndromes. To test this hypothesis, 10 individuals with MFDH were analyzed by fluorescent in situ hybridization (FISH), but no 22q11.2 deletion was detected. In view of this result, the TBX1 gene located within the 22q11.2 candidate region was screened. A new sequence variant (1132GA) was identified in one patient. This variant was not found in 110 control individuals genotyped. Considering the rarity of this condition and results of this study, the involvement of the 22q11.2 chromosomal region in the pathogenesis of MFDH could not be excluded.

Median Facial Cleft Dysmorphism in Three Siblings: Case Report and Review of the Literature

Cleft of the facial midline is an extremely rare entity, occurring in probably less than 1 per 100,000 births (Kawamoto and Patel, 1998). Median facial cleft may present with a wide spectrum of features, including hypertelorbitism, V-shaped frontal hairline, bifid cranium, broad nasal root, bifid nose, median cleft of the upper lip, and median cleft of the premaxilla (Urata and Kawamoto, 2003). This condition is most commonly known as a 0–14 cleft, as classified by Tessier (1976), but multiple other classifications and terminologies have been proposed (DeMyer, 1963; Sedano et al., 1970; Cohen, 1982; van der Meulen et al., 1983; Kawamoto and Patel, 1998). In this article, we will refer to all cases as median facial cleft dysmorphism, as suggested by Kawamoto and Patel (1998). Genetic inheritance is most commonly sporadic, with other reported cases suggesting an autosomal dominant or Xlinked dominant inheritance pattern. We report three cases of median facial cleft dysmorphism, all of which occurred in siblings of the same family; we describe the clinical features and give support to the published literature suggesting an autosomal dominant inheritance pattern.

Open Approach Via the Nasal Dorsum With Dermal Graft for Bifid Nose

Bifid nose is a rare congenital anomaly and is also called double or cleft nose. The mode of appearance varies: from a simple groove at the nasal apex to a maxillary cleft. Neither surgical procedures nor the best time of surgery has been established. In this study, we performed dermal graft using an open approach via the nasal dorsum in patients with bifid nose and obtained good results. In the operation, a surplus skin of the nasal dorsum was resected through the nasal dorsum as a spindle graft and stored. The resected skin was denuded and the dermal graft applied on the nasal apex. For external nose plasty, it remains controversial which of 2 procedures, open or closed approach, should be selected. We have used the open approach to obtain a good surgical field. Nasal cartilage displacement could be confirmed under direct vision, facilitating cartilage correction. Furthermore, we could use the surplus skin component that is routinely abandoned and achieve a favorable nasal apex shape without adding supplemental invasiveness.

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we report the results of linkage analysis, on this family and on two other families with a similar phenotype, which identified a shared region of homozygosity on chromosome 9p22.2-p23. Candidate-gene analysis revealed homozygous frameshift and missense mutations in FREM1, which encodes an extracellular matrix component of basement membranes. In situ hybridization experiments demonstrated gene expression of Frem1 in the midline of E11.5 mouse embryos, in agreement with the observed cleft nose phenotype of our patients. FREM1 is part of a ternary complex that includes FRAS1 and FREM2, and mutations of the latter two genes have been reported to cause Fraser syndrome in mice and humans. The phenotypic variability previously reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of BNAR in humans may represent a previously unrecognized variant of Fraser syndrome.

Bifid Nose With Cleft Hand Deformity

The simultaneous presentation of bifid nose and bilateral cleft hand defects has not previously been described. Already rare in presentation, the bifid nose continues to challenge reconstructive surgeons as to optimal management. Although cleft defects of the hand may be somewhat more common, the multitude of surgical approaches available to correct these deformities is a testament to their lack of optimal effect. From an etiologic standpoint, it would seem that facial and hand clefting might share little in common. However, our recent experience with managing these coincident deformities in a newborn prompted a re-evaluation of material related to this exceedingly rare event. Here, we present a 4-month-old female infant with a coincident bifid nose and central ray deficiency.

Surgical Correction of Tessier Number 0 Cleft

The no. 0-14 cleft involves the midline of the face and cranium. It may include both a true and a false median cleft lip, with or without associated hypotelorism or hypertelorism. The no. 0 cleft is the most common of the craniofacial clefts. The objective of this study was to review the functional outcome and aesthetic results of the different techniques applied for each case. We have conducted a retrospective analysis of our series consisting of 32 cases of Tessier no. 0 cleft, in the period between 1997 and 2007. The patients were divided into 2 groups: those with the true median cleft and those with the false median cleft. The clinical findings, lip malformation, alveolar cleft, nasal appearance, septal involvement, associated deformities, and surgical procedures, were all reviewed. Holoprosencephaly was present in 9 cases, with a false median cleft upper lip and an absence of the premaxilla, septum, and columella (only 1 patient underwent lip and columella reconstruction at 2 years of age). Nine patients had an incomplete median cleft lip. Seven of these cases had associated median alveolar cleft, and 1 had an intranasal tumor, associated with lipoma of corpus callosum, characteristic of the Pai syndrome. Six cases of a bifid nose were seen, 2 of which were associated with an alveolar median cleft and hypertelorism. An isolated median alveolar cleft was present in 7 cases, 2 of them associated with a no. 30 cleft. This article presents a large series of Tessier no. 0 cleft, describing the differences between the false and the true median cleft. The surgical procedures may vary in relation to the type of involvement.

Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum

Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.

Two siblings with an unusual nasal malformation: Further instances of craniorhiny?

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed.

Combined Intraoral and Nasal Approach to Tessier No:0 Cleft With Bifid Nose

The surgical correction of craniofacial clefts is an extremely difficult field in pediatric plastic surgery. Facial clefts are rare entities that most plastic surgeons will rarely have to manage. Various surgical techniques devised by some authors for facial clefts have not still widely accepted. The bifid nose deformity is generally an indicator of Tessier No:0 clefts, with various degrees of skeletal problems. The nasal roof area is an important key point in determining the appropriate surgical technique for reconstruction. In this report, a case of Tessier No:0 with a moderate nasal bifidity and ours novel surgical repair technique combining oral and nasal incision are presented.

Pai Syndrome: An Adult Patient With Bifid Nose and Frontal Hairline Marker

Abstract Objective: A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. Magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.

Congenital minor malformations of the soft tissue and muscle of the philtrum with associated nasal deformity

A 9-year-old girl presented with an abnormal muscle of the upper lip, a congenital philtral deformity associated with a short columella and a bifid nose. The deformity was most clearly seen with facial expression. Congenital nasal anomalies may occur alone or in combination with clefts of the lips and face. In this case, there was no palpable facial cleft. The contribution of the medial nasal processes to the formation of the nasal septum, columella, and philtrum and the proposed embryologic errors have been well described. A three-dimensional model of the philtrum and a transverse histological section from a third trimester fetus is illustrated. The smooth muscle tissues are formed by the embryonic connective tissue. A minor malformation of unilateral skin and soft tissue between columella and philtrum may be a focal fetal dysplasia and can be considered a type of facial cleft. The patient can be classified in a morphogenetic group with a slight focal fetal dysplasia.

Three-dimensional computed tomography of congenital nasal anomalies

Objective: To determine the utility of performing three-dimensional (3D) computed tomography (CT) of congenital naso-frontal anomalies for preoperative planning and counseling and compare it with standard two-dimensional (2D) imaging and intraoperative findings. Study Design: Prospective case evaluation of imaging studies and medical records in cohort of patients with congenital nasal anomalies. Methods: We performed 3D CT imaging of three different types of congenital nasal lesions. Additional preoperative imaging consisted of standard 2D CT scans and/or magnetic resonance imaging (MRI). Information obtained from the 3D CTs was compared with other standard imaging and intraoperative findings. Results: 3D CT was most useful in the case of a large encephalocele with a significant bony defect of the anterior cranial fossa. It provided moderate utility when used to evaluate a nasal dermoid with nasal bone and septal abnormalities and was of limited benefit in the case of a bifid nose with significant external soft tissue deformity and relatively normal bony anatomy. Conclusion: Congenital midline nasal anomalies are rare lesions with the potential for intracranial extension and anterior skull base abnormalities. The safe surgical treatment of these lesions depends upon accurate preoperative imaging to assist in establishing the diagnosis, to help guide surgical planning, and to assist in communicating the diagnosis and surgical approach for optimal counseling of families. 3D CT was instrumental in providing additional useful information in cases with significant bony abnormalities at little additional cost or time. It is also beneficial for preoperative counseling of patients and families with limited medical knowledge.

Treatment of Alar Cartilage Malposition Using the Cartilage Disc Graft Technique

Patients with a bifid, cephalically rotated, contour-deformed, bulky, overprojected, pinched-tip, alar-dislocated, and/or alar-tethered nose had primary and secondary rhinoplasties using complete lateral alar cartilage mobilization, modification, and repositioning and the cartilage disc tip-graft technique. This technique avoids the pitfalls of classic in situ subtraction rhinoplasty and provides a better way to correct the nasal shape without causing airway obstruction. This technique was performed in 30 patients in the past 6 years who had primary or secondary rhinoplasties, with satisfactory results.

Median Cleft of the Lip: Its Significance and Surgical Repair

Median cleft lip is a midline vertical cleft through the upper lip in the absence of a prolabial remnant. This may occur as a sporadic event or be part of an inherited sequence of anomalies. A failure of formation or fusion of the medial nasal prominences derived from the frontonasal prominence is ultimately responsible for this aberration. Two categories of dysplasia are associated: (1) frontonasal deformity associated with hypotelorism and (2) median facial cleft syndrome associated with hypertelorism. A patient presents with median cleft lip, mild bifid nose, and hypertelorism. Following surgical reconstruction, a good result is achieved. The embryology, implications for associated abnormalities, and surgical technique for treating these cases are discussed.

External approach (nasal decortication) for congenital anomalies of the nose

Authors have the experience of using external approach for over thirty patients presenting with nasal deformities. Whereas this approach has been found to be satisfactory for routine cosmetic problems, its versatility was highlighted while dealing with two specific and rare problems-Bifid nose and Nasal dermoid. This article deals with technique of external rhinoplasty and experience of using this approach in bifid nose and nasal dermoid. A review of congenital bifid nose and nasal dermoid is also presented.

正中鼻裂症の２例

We encountered a 7-month-old female and a 15-year-old male with bifid nose which was treated surgically.In the first patient, thick skin with a longitudinal fissure extending along the nasal dorsum was excised in a spindle-shape. Four incisions parallel to the nasal septum were performed, two of which were made along the nasal septum; the other incisions ran lateral to them. Thus, the nasal cartilages were sutured centrally for augmentation. The remaining orbital hypertelorism will require correction by craniofacial surgery in the future.In the second patient, the nasal dorsum was flattened and covering skin was normal. However, a small concavity was detected on the nasal tip. This deformity was easily corrected by augmentation rhinoplasty using a silicone prosthesis.The classification and etiology of a bifid nose are reviewed, and introduce the ‘Cleft Numbering System’ of Tessier.

Delineation of the male phenotype in carniofrontonasal syndrome.

We are reporting on a 4-generation family in which 6 individuals had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/6), pectus excavatum (3/6), narrow, sloping shoulders (3/6), diaphragmatic hernia (2/6), broad first toe (4/6), brachydactyly (3/6), fifth finger clinodactyly (5/6), longitudinal grooves of nails (5/6), shawl scrotum (2/3 males), first degree hypospadias (1/3), and mild mental retardation (1/6). Only one affected female had brachycephaly and right coronal synostosis. Four other affected relatives had varying degrees of facial asymmetry, but normal skull contour. No male to male transmission is observed, and both daughters of an affected male were affected. Based on the phenotype of the 3 affected females, craniofrontonasal syndrome (CFNS) is the likely diagnosis. However, there are 3 affected males in this kindred, and 2 of the 3 had significant anomalies. Affected males also had genital abnormalities and pectus deformity of the chest, not previously reported in this condition. Two of the 3 males have posterolateral diaphragmatic hernia. This family expands the phenotype of affected males.

Tissiers's 0-14 Flefts

SummaryClefts on 0-14 axis of Tessier have two distinctly different presentations. With a hypoplastic presentation there is an involvement of the forebrain and as ‘face foretells the brain’ a severe hypoteloric appearance is always associated with severe brain damage and poor life expectancy. With hypertelorism however the spectrum of presentation may extend from the less severe hypertelorism alone to the most severe form of median cleft lip and palate, bifid nose and cranium bifidum accultum which are amenable to corrective craniofacial surgery.