Flat Nasal Tip Research Articles

Prospective study of nasal growth in bilateral cleft lip and palate patients after naso-alveolar moulding and primary columella lengthening compared to controls at 5, 10 and 20 years.

A short columella, wide nostrils and a flat nasal tip are common features in patients with bilateral complete cleft lip and palate (BCLP). The objective of this study was to evaluate nasal morphology during growth in patients treated with naso-alveolar moulding (NAM) and primary surgical columella lengthening (PCL) compared with matched non-cleft individuals. Prospective longitudinal case-control study. Thirty-four consecutively treated BCLP patients at 5 and 10 years and at the end of growth (19.7 ± 2.0 years) were compared through normalized photogrammetry to a control of 34 age and sex-matched non-cleft individuals. Regression Models for Panel Data assessed how nasal measurements were influenced by surgery, age and gender. Nasal protrusion was equal to non-cleft controls at all ages. Length of the columella was also comparable to controls at 5 and 10 years, but significantly shorter at the end of growth. Inter-alar and nasal tip width and nasolabial angle were significantly wider than controls at all ages: More than 60% of the patients have asked for correction of the nasal width, but no early surgery for columella lengthening was needed. NAM and PCL have provided a nasal projection close to that of non-cleft individuals until adulthood, while length of the columella was physiological at 5 and 10, but shorter than controls at age 20. Width of the nasal tip and width of the alar bases were significantly wider than the controls and eventually required secondary nasal width correction in over two thirds of the sample.

Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome

To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1). A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate variant was verified by Sanger sequencing. The proband has featured hypotelorism, broad nasal root, flat nasal tip, lobulated tongue, tongue neoplasia, camptodactyly of left fifth finger, syndactyly of right fourth and fifth fingers, and delayed intellectual and language development. Trio-WES revealed that the proband and her daughter, sister and mother have harbored a heterozygous c.224A>G (p.Asn75Ser) variant of the OFD1 gene. The same variant was not found among healthy members from her pedigree. The c.224A>G (p.Asn75Ser) variant probably underlay the OFD1 in this pedigree. Above discovery has enriched the spectrum of OFD1 gene variants.

The Harvest of a Lateral Segment of Costal Cartilage for Treating Nasal Deformities.

Although costal cartilage has many uses and is a reliable source of cartilage for rhinoplasty procedures, donor-site complications may arise with conventional harvesting techniques. The present report reports a novel technique of harvesting costal cartilage using a specially designed scalpel and studies the use of the harvested cartilage in the reconstruction of secondary nasal deformities in patients with cleft lips. Ten patients (7 females and 3 males) with nasal deformities secondary to cleft lip underwent rhinoplasty using this new technique at the Department of Oral and Maxillofacial Surgery, Second Hospital of Hebei Medical University, China, between May 2011 and December 2013. Clinical outcomes were evaluated with a follow-up period of 6 to 30 months. The new technique successfully corrected primary nasal deformities, including flat nasal tip, short columella, flaring alae, and asymmetrical nostrils. Surgeons and patients assessed the outcome to be either good or satisfactory. Patients experienced transient discomfort at the wound site but there were no major complications (such as wound infection, dehiscence, exposure, graft extrusion, and pulmonary involvement). The novel technique can harvest a lateral segment of costal cartilage for use in the reconstruction of nasal deformities secondary to cleft lip in a one-stage procedure, with minimal donor-site morbidity.

A case report: Hearing disorder in Kabuki make-up (Niikawa-Kuroki) syndrome in China

The study reports a case of a 5-year-old Chinese girl diagnosed with Kabuki make-up Syndrome (KMS). The patient showed classic KMS appearance: widely separated eyes, ectropion of lateral one-third lower eyelids, flat nasal tip, and prominent ears. Auditory features in this individual included bilateral severe sensorineural hearing loss and lack of 40 Hz AERP responses identified at 1 year of age. The individual received cochlear implant (CI) in the left ear when 5 years old, and rehabilitation after CI treatment were 3 in speech intelligibility and 5 in auditory performance. Thus, our findings suggest that cochlear implant may be helpful to restore hearing for individuals with Kabuki syndrome.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa–Kuroki) syndrome (MIM#147920). To further elucidate the genotype–phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2‐Kabuki score 0–10). Sequencing of the full coding region and intron–exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice‐site mutations, 34 of which were novel. In five additional patients, novel, i.e. non‐dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median ‘MLL2‐Kabuki score’ of 6) as compared to the patients without MLL2 mutations (median ‘MLL2‐Kabuki score’ of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.

Brachytelephalangic chondrodysplasia punctata

Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy. This paper presents a clinical series of 13 patients with brachytelephalangic dysplasia. These patients enrolled during 2002-2006 were re-evaluated and their dysmorphic features were compiled in a predesigned proforma. Skeletal survey, karyotype, cardiac evaluation, and ophthalmic evaluation were planned for all the cases. Out of 13 patients, 10 were males and three were females. All patients had flat facies, a depressed nasal bridge, a hypoplastic nose, a short philtrum, notched alae nasi, brachydactyly, and hypoplastic terminal phalanges. In addition, congenital heart disease, optic nerve hypoplasia, and developmental delay were found in a few patients. Radiography showed hypoplastic terminal phalanges, delayed bone age (1/13), epiphyseal stippling in carpal (3/13) and tarsal bones (2/13), sacral bone (1/13), and bullet-shaped lumbar vertebra (1/13). Cranial neuroimaging, thyroid profile, and karyotype carried out in a few were normal. The present paper discusses various clinical features and associated abnormalities in patients with brachytelephalangic dysplasia (CDPX1) to further delineate the phenotype. The presence of a similar phenotype in females suggests the possibility of another locus or manifestation of disease in heterozygous females. Arylsulfatase E gene analysis would further help in establishing the genotype-phenotype correlation.

Application of porous high-density polyethylene combined with auricular cartilage in nasal tip plasty

Objective To explore the methodology and the indications of applying the porous high-density polyethylene(Medpor)combined with auricular cartilage in nasal plasty.Methods A total of 36 cases of nasal plasty were treated with the 8.5 mm thick Medpor implant(speader strut graft)and combined with the auricular cartilage graft to highlight the nasal tip.Results All 36 cases were satisfactory with the effects,and there were no complications such as infection,exposure of the implants and so on.Conclusions Medpor can supply the powerful supporting strength to the nasal tip,and it is a safe,effective implant to rebuild the supporting constructions of nasal tip,especially suitable to correct the over-rotation of nasal tip,flat nasal tip,and short nose. Key words: Porous high-density polyethylene; Medpor; Nasal tip plasty; Auricula; Cartilage

Dental findings in Kabuki make‐up syndrome: a case report

This article documents the case history of a 9-year-old Brazilian child diagnosed with Kabuki make-up syndrome (KMS). The clinical features are described, with emphasis on the craniofacial and orodental manifestations. The patient had the distinctive KMS craniofacial features consisting of long palpebral fissure, hypertelorism, high-arched eyebrows with sparse hair in the lateral one-third, eyes with eversion of the lateral one-third of the lower eyelids, long and curved eyelashes, palpebral ptosis, large anteverted prominent ears in a lower position, broad, depressed nasal root with a flat nasal tip, and mild neuropsychomotor developmental deficits. The intraoral examination revealed an anterior open bite, overretention of primary teeth, and a high-arched palate. Two findings in this child have not been previously reported in patients with KMS: the presence of supernumerary teeth and taurodontic teeth in the maxillary arch. The clinical and radiographic detection of these unique dental features may be helpful in identifying children who may have milder forms of KMS.

Anthropometric and Anthroposcopic Findings of the Nasal and Facial Region in Cleft Patients before and after Primary Lip and Palate Repair

Two populations were studied and compared to determine the effects of cleft lip and palate surgery on the nose and face. In the first, three anthropometric measurements, two nasal and one facial, were taken before primary lip repair from infants with complete unilateral cleft lip and palate (UCLP) and with bilateral cleft lip and palate (BCLP). In the second, ten measurements were taken from the nose and face of patients surgically treated for UCLP and BCLP. The high frequency of noses disproportionately wide in relation to their height in both cleft types before primary lip repair greatly decreased after surgery. Among the residual deformities after surgery for UCLP, nostril floor width asymmetry was the most frequent, followed by columella length asymmetry, flat nasal bridge, wide soft nose, flat nasal tip, and small nasal tip protrusion. In the BCLP patients, nostril floor width asymmetry was also the most common stigma, followed by flat nasal tip, wide soft nose, columella length asymmetry, flat nasal bridge and bilaterally angled alae, and small nasal tip protrusion. A subnormally flat upper face inclination was observed in UCLP and BCLP patients. Quantitative determination of these nasal stigmata in cleft lip and palate patients who have undergone primary lip repair provides valuable information for surgical correction of the cleft soft-tissue deformities.

Aesthetic camouflage of bilateral cleft lip scars: Technical revisions

We have attempted to change the two scar lines of bilateral cleft lip repair into one zigzag scar line. The prolabium is used to push up the columella and the nasal tip. The donor site of the prolabium is closed by transposition of the nasolabial flap. The postoperative scar shows one zigzag line at the center of the lip. This method has many advantages including an inconspicuous scar, repair of the short columella and flat nasal tip, repair of a wide nose, and repair of the whistling deformity. Complications of this method are maxillary retardation, long lip deformity, and keloid formation. However, these can be avoided by modifying the method.

Reconstructive rhinoplasty with nasal implants

A new method of immobilizing nasal implants is the creation of a strong fibrotic reaction with sewn polyester (Dacron) felt. It has been applied to saddle nose deformity, as well as maxillary retrusion of flat nasal tip. Over a period of 15 years in a large number of cases, the complications have been only a temporary inflammatory reaction in 5% of the cases.