Heminasal Aplasia Research Articles

Proboscis Lateralis of the Nose

Abstract Proboscis lateralis (PL) of the nose is a very uncommon craniofacial anomaly characterized by a rudimentary tubular nose-like structure seen a little away from the midline of the face. It may be associated with other anomalies such as heminasal aplasia, mental retardation, callosal agenesis, microphthalmia, heminasal hypoplasia, and atypical clefting syndrome. Patients with this congenital craniofacial malformation need proper evaluation with the help of a computed tomography scan to assess the growth of facial and skull bones. The esthetic aspects and psychological problems are often a concern for patient’s families. The cartilaginous part or bony support of the nose can be reconstructed following proper growth of the face. Here, we presented a male neonate of 15 days with PL of the nose. There was no evidence of cleft lip or cleft palate. Parents were counseled for staged repair at an early age to avoid anxiety and to allow proportionate growth of the nose and face.

HEMINASAL APLASIA IN A PATIENT WITH CLEFT LIP: A CASE REPORT

<h3>Background</h3> Heminasal aplasia is a rare congenital unilateral malformation of the facial region caused by the failure of embryologic development of a nasal placode. To date, less than 100 cases have been reported globally. <h3>Objective</h3> We report here a case of a 13-year-old female presented for evaluation of a supernumerary tooth with no history of consanguinity or comparable family history of reported findings. The patient had a history of cleft lip repair and cannulation of the right tear duct. The patient exhibited right heminasal aplasia untreated by surgery. <h3>Materials and Methods</h3> Cone beam computed tomography (CBCT) showed complete aplasia of the right maxillary, sphenoid, and ethmoid sinuses. <h3>Results</h3> The right nasal cavity, corresponding nostril, and nasal septum were absent and the right lacrimal duct was only partially formed. Facial asymmetry was noted on an axial view as a depression in the right maxilla. No orbital involvement was noted. <h3>Discussion</h3> The absence of both external and internal ipsilateral structures is inherent to heminasal aplasia. According to Mazzola's classification of frontonasal malformations, this case is classified as an "upper face, half nose" nasal aplasia.

The arrhinias: Proboscis lateralis literature review and surgical update

Proboscis lateralis (PL) is a rare malformation, reported for the first time in 1861 by Forster in his monograph on congenital malformations of the human body. The abnormal side of the nose is represented by a tube-like rudimentary nasal structure, attached at any point along the embryonic fusion line between the anterior maxilla and the frontonasal processes. As clefts of the lip (and alveolus) are bilateral or unilateral, an arrhinia can be bilateral (total) or unilateral. In this case it is a ‘hemi-arrhinia’ (or heminasal agenesis. The arrhinias represent three groups of anomalies, each with different levels of clinical severity, some involving association with the labio-palatal cleft or agenesia of the premaxilla (1). In PL the nasal cavity on the affected side is replaced by a tubular appendage located off-center from the midline of the face, arising commonly from the medial aspect of the roof of the orbit (2). It is usually associated with heminasal aplasia or hypoplasia, microphthalmia, and — less commonly — with midline clefting. Associated brain and cranial vault anomalies are seen in 19% of these patients. PL is usually unilateral, with very few symmetrical/bilateral cases being reported (3). Morpho-aesthetic and psychological problems are frequent concerns for the patients and their families.In this study, the authors describe a clinical case and the chosen surgical technique, as well as reviewing the alternative techniques present in the literature.

Heminasal Aplasia, a Rare Congenital Anomaly of Nose: Case Report and Review of Management Strategies

Heminasal aplasia is a rare congenital anomaly of nose that has rarely been reported in the English literature. The surgical management remains a challenge due to its rarity and lack of uniform management guidelines. We report a case of heminasal aplasia, managed successfully at our institute and systematic review of the available literature. Keywords: Heminasal aplasia, Hemi-arhinia, Aplasia nose, Arhinia, Absent nose, Half nose, Reconstruction, Anomaly of nose, Nasolabial flap, Folded nasolabial flap.

Proboscis Lateralis of Nose—A Case Report

Lateral proboscis is a rare craniofacial malformation characterized by a rudimentary tubular, nose-like structure located off-center from the vertical midline of the face, and occur in association with a wide spectrum of other anomalies, including heminasal aplasia spectrum,mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting syndrome. Evaluation of a patient should include CT scan examination to look for growth of facial and skull bones. Reconstruction should start at an early age. Proboscis itself is the best option for heminose formation. Cartilaginous or bony support can be planned later in the late teens. Esthetic and psychological problems are often concern of the patient and families. Here we presented a male infant of 2months with Proboscis Lateralis. There was no e/o cleft lip or cleft palate. Staged repair was done at an early age to avoid anxiety of parents and to allow proportionate growth of nose and face.

Clinical findings in patients with GLI2 mutations – phenotypic variability

Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated into the general phenotype. Here we described six Brazilian patients with phenotypic manifestations that range from isolated cleft lip/palate with polydactyly, branchial arch anomalies to semi-lobar holoprosencephaly. Novel sequence variants were found in the GLI2 gene in patients with marked involvement of the temporomandibular joint (TMJ), a new clinical finding observed with mutations of this gene. Clinical, molecular and genetic aspects are discussed.

Heminasal Aplasia: Clinical Picture, Radiological Findings and Early “Temporary” Reconstruction with a Nasolabial Flap

Heminasal Aplasia: Clinical Picture, Radiological Findings and Early “Temporary” Reconstruction with a Nasolabial Flap

Proboscis Lateralis

Proboscis lateralis is a rare spontaneous congenital anomaly that results from a failure of normal embryological nasal development. The ensuing deformity consists of imbrication of the nasal soft tissues into a tubelike proboscis and can be associated with ipsilateral heminasal aplasia, choanal atresia, and multiple other abnormalities. A case report of a patient with proboscis lateralis is presented, with a 27-year follow-up detailing the complexities of long-term surgical management. After 15 major surgical interventions, there is relatively normal facial symmetry, but abnormalities remain with the underlying craniofacial skeleton and nasopharyngeal airway. Proboscis lateralis is not an isolated soft tissue abnormality but is a craniofacial defect that requires a long-term multidisciplinary approach to the surgical timing and treatment with lifelong follow-up.

Heminasal aplasia: A report of two cases

Heminasal aplasia is a rare congenital malformation. It is often associated with other malformations of the facial region, including abnormalities of the eye and lacrimal system, facial bone malformations and proboscis lateralis. We present two cases of heminasal aplasia, discuss their embryological basis and nasal reconstruction of the same.

GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?

We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient.

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.

Proboscis lateralis: report of two cases

Proboscis lateralis is a rare congenital anomaly and heminasal aplasia is the most common associated anomaly. The proboscis is an ideal donor structure that has good colour and texture match to reconstruct the heminose and should not be sacrified. We present the staged reconstruction of two patients using a subcutaneous tunnel method. An individualised approach to the patient determines the ideal method of reconstruction.

Proboscis lateralis: a case report

Proboscis lateralis is a rare facial anomaly resulting in incomplete formation of one side of the nose. We report a left-sided proboscis lateralis case of a 9 months old male with left-sided heminasal aplasia, microphthalmi, coloboma iris and retina and an arachnoid cyst in the temporal fossa of the brain. We present the clinical, radiological features of this unusual case.

Heminasal aplasia

We report a child with right-sided heminasal aplasia in combination with anomalies of the right eye and maxilla. Unilateral aplasia of the nose is a rare congenital malformation. It is often associated with other malformations of the facial region, including abnormalities of the eye and lacrimal system, proboscis lateralis, and facial bone malformations. The eye anomalies in our patient consisted of microphthalmia with blepharophimosis and coloboma of the iris, retina and upper eyelid. Also hypoplasia of the lacrimal apparatus and right maxilla, and a rudimentary alveolar cleft on the same side were present. The embryological development of the midface can explain this association of anomalies.

The Proboscis Lateralis—A 14-Year Follow-Up

A short historical review of proboscis lateralis is given and some of the important contributions highlighted. Forster was the first to mention this abnormality. I collected 34 cases from the literature (including one of my own) and have divided them clinically into four groups. The proboscis is most commonly associated with deformities of the ipsilateral half nose, the eye, and its adnexa. The various lines of management of this problem are discussed. I recommend dilating the canal of the proboscis as a useful step when it is used for reconstructing the absent heminose. A case of a left proboscis lateralis associated with an ipsilateral heminasal aplasia, a bilateral cleft of the lip and palate, a congenital cleft ala, and microphthalmia with a coloboma of the lower eyelid is documented.