Holoprosencephaly results from incomplete separation of the cerebral hemispheres. Cyclopia is a facial manifestation of Holoprosencephaly, characterized by a midline single orbit and proboscis. Prenatal diagnosis is done by ultrasonography and can be supplemented by MRI. This case uniquely presents ultrasound and gross morphology correlation of cyclopia in a resource limited setting, and a correlation between facial features, intra-cranial anatomy, and lifespan. We report a 39-year-old gravida 3 para 2 woman with a history of alcohol consumption who presented for her first antenatal checkup at 19 weeks of gestation. Ultrasound revealed a single lateral ventricle with fused thalami, absent orbital structures, and a midline cystic protrusion (proboscis). After thorough counseling, pregnancy was terminated, and cyclopia was confirmed on gross inspection. Karyotyping and fetal echocardiography were not done due to parental preference. Alobar holoprosencephaly, the most severe subtype, is diagnosed by identification of single ventricle and associated facial anomalies. Lobar holoprosencephaly, however, requires coronal imaging to demonstrate absence of cavum septum pellucidum and fusion of frontal horns. The severity of facial anomalies correlates with underlying brain malformations. Chromosomal anomalies, maternal diabetes, infections, and teratogenic exposures like alcohol are known risk factors. Differential diagnoses include proboscis lateralis, midline encephaloceles and frontonasal dysplasia. This case highlights the prognostic significance of facial and brain anomalies and diagnostic utility of prenatal ultrasound in diagnosing holoprosencephaly underscoring the necessity of timely prenatal visits. Definitive genomic studies were not feasible, but maternal alcohol consumption can be considered as a possible risk factor.

Proboscis lateralis is an uncommon craniofacial malformation characterized by the presence of a rudimentary tubular nasal appendage originating from the medial canthal region. The degree of severity varies according to the extent of associated structural involvement, which may include ocular and nasal abnormalities, cleft lip and/or palate, and concurrent intracranial anomalies. Multidisciplinary approach is the mainstay of definite management. We report the case of a 4-month-old infant who presented with a 3-cm tubular lesion arising from the right medial canthus. The lesion contained a central opening with intermittent cerebrospinal fluid leakage, particularly during episodes of crying or straining. The patient was initially misdiagnosed with an ophthalmic disorder and underwent multiple referrals before definitive evaluation at our unit. Computed tomography revealed herniation of a portion of the right frontal lobe through a 2 × 1 cm bony defect into the preseptal region. The lesion was excised, and the fascial defect was repaired following plastic and reconstructive surgical principles. Postoperative recovery was uneventful, and the patient was discharged in stable condition 48 h later. Corrective management of the right hypoplastic nostril was deferred until late adolescence to address potential functional or cosmetic concerns.

Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure. On the basis of 34 reported cases, Boo-Chai developed the first classification system in 1985 based on commonly associated anomalies of the eyes, palate, and lips. Sinonasal deformity is the most prevalent systemic abnormality associated with PL, accounting for 87.9%, and concomitant ocular anomalies account for 44-70%. We report a case of PL in a 20-month-old female patient with a mass in the left medial canthal area, and ipsilateral symptomatic epiphora. The removal of the proboscis at 4 months without the reconstruction of the nasolacrimal duct resulted in secondary sequelae that lasted 16 months. A second operation by a multidisciplinary team released the pressure on the lacrimal sac and reconstructed the lacrimal system. External dacryocystorhinostomy (DCR) is performed through the original external incision aided by nasal endoscopic examination. The bony passage between the nasal cavity and the lacrimal sac was reconstructed, and nasal endoscopy revealed a wide opening in the nasal cavity of at least 6 mm. Follow ups ensured a patent nasal airway, without complications. It is instructive to learn from this case that treatment plans for PL should consider associated ocular anomalies and lacrimal drainage reconstruction, following a comprehensive and multidisciplinary approach.

Complex congenital lacrimal drainage anomalies are known to be associated with several syndromes and present unique surgical challenges. Duplication of human body structures is uncommon and has been reported in the uterus (uterine didelphys), ureter (duplex ureter), duodenum, transverse colon, and nose. Lacrimal drainage anomalies have been reported in proboscis lateralis. To the best of the authors' knowledge, there are no prior reports on duplication of the lacrimal sac. The present case reports a complex congenital nasolacrimal duct obstruction that was associated with duplication of the lacrimal sac and the presence of 3 canaliculi.

The case of a female patient who was born with proboscis lateralis, choanal atresia, and telecanthus is submitted. A report is made on the initial management of this patient, the clinical follow-up that has been carried out so far, and a review of the literature is conducted, taking into account the limited information found in this specific pathology, in order to contribute to its diagnostic orientation and treatment from a plastic and craniofacial surgery point of view.