Hallermann-Streiff Syndrome in Concordant Monozygotic Twins With Congenital Cataracts, Exudative Retinal Detachments, and One Case of Corneal Perforation Requiring Keratoplasty.

PURPOSE: We describe the management of Hallermann-Streiff syndrome in monozygotic female twins with congenital cataracts, exudative retinal detachments, and 1 case of corneal descemetocele with associated dellen and subsequent perforation. METHODS: This study was a case report and review of the literature. RESULTS: Twins 1 and 2 exhibited all 7 cardinal characteristics of Hallermann-Streiff syndrome, presenting with spontaneous lenticular resorption, anterior uveitis, and glaucoma. They underwent bilateral cataract extraction with near total capsulectomy. Both twins experienced recurrent glaucoma, for which twin 1 underwent successful endocyclophotocoagulation in both eyes and twin 2 in the left eye alone. The fellow eye developed 2 sites of perilimbal corneal descemetoceles with associated dellen at the inferotemporal limbal corneal junction leading to spontaneous perforation of 1 site, requiring a full-thickness corneal graft. Both twins developed recurrent bilateral exudative retinal detachments unresponsive to oral prednisolone. Twin 1's last best-corrected visual acuity with aphakic spectacles was 20/260 in the right eye and 20/130 in the left eye at age 4 years and 8 months. Twin 2's last best-corrected visual acuity was 20/130 in each eye at age 4 years and 11 months, over a year after right eye penetrating keratoplasty. CONCLUSIONS: We describe 2 rare cases of Hallermann-Streiff syndrome in monozygotic twins complicated by corneal perforation requiring penetrating keratoplasty in 1 eye of 1 twin. Although corneal opacities have been described in this condition, this is the first case of corneal descemetocele in Hallermann-Streiff syndrome. The cornea was stabilized with a relatively favorable visual outcome over 1 year later.

Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases.

Hallermann Streiff syndrome (HSS) is a rare congenital abnormality with about 200 case reports in the literature. Its etiology is unknown although it may be due to a sporadic mutation. Diagnosis is based on the association of craniofacial malformation, dental abnormalities, hypotrichosis, atrophy of the skin, proportionate nanism, congenital cataract and bilateral microphtalmos. Cranio-facial deformities are the main signs detected and the most easily recognizable. We report cranio-facial and oral signs from a systemic literature review, and illustrate our findings with two of our patients diagnosed with HSS. Common cranio-facial manifestations are craniofacial malformation with a « parrot beak ¼ nose, micrognathia, aprominent skull, sutures closing anomaly, malocclusion, dental anomalies, eyebrows and eyelash lack and atrophy of the nose skin. Knowledge of these signs should allow for early diagnosis and adequate treatment and follow up.

EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME.

PURPOSE: To report a case of exudative retinal detachment caused by a choroidal neovascular membrane in Hallermann-Streiff syndrome. METHODS: The authors report a 7-year-old white male with Hallermann-Streiff syndrome who developed exudative retinal detachments secondary to choroidal neovascular membrane that resolved after off-label use of intravitreal injections of bevacizumab 1.25 mg. CONCLUSION: Patients with Hallermann-Streiff syndrome and exudative retinal detachment present with choroidal neovascular membrane can respond well with intravitreal injections of anti-vascular endothelial growth factor.

Síndrome de Hallermann-Streiff y embarazo: manejo de la vía aérea difícil en embarazadas / Hallermann-Streiff syndrome and pregnancy: management of difficult airway in pregnant women

El síndrome de Hallermann-Streiff es una rara entidad asociada a hipoplasia del tercio inferior de la cara, determinando así una vía aérea de difícil manejo. Se presenta el caso de una mujer de 21 años con ese síndrome, acondroplasia, escoliosis severa e infección respiratoria los días previos a la interrupción exitosa de su embarazo mediante cesárea. El manejo requirió una cuidadosa evaluación preoperatoria y disponibilidad inmediata de dispositivos alternativos para el manejo de la vía aérea en caso necesario. La gravidez, así como ciertas comorbilidades asociadas, aumentan la posibilidad de una intubación fallida con morbi-mortalidad secundaria importante, dado ello, es necesaria la preparación e implementación de algoritmos atingentes para el manejo de la vía aérea en casos como el presentado.

The Hallermann-Streiff syndrome is a rare entity associated to hypoplasia of the lower third of the face, determining a difficult airway management. We report the case of a 21 years female with this syndrome, achondroplasia, severe scoliosis and respiratory infection at the days prior to the interruption of her preg-nancy by cesarean section. Her management required a carefully preoperative evaluation and availability of alternative devices to secure her airway. Pregnancy and certain comorbidities increase the chance of a failed intubation with severe secondary morbidity and mortality, given this, the correct preparation and implementation of difficult airway algorithms in pregnancy if it’s necessary.

Brown-McLean Syndrome in a Patient with Hallermann-Streiff Syndrome

No abstract available.

Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth.

Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies. Occurrence is sporadic and distinct patterns of inheritance have not been found. This case report describes the dental management of a 3-year-old girl patient with HSS, who had unusual radiographic appearance of teeth. Furthermore, dental treatments and a 30-month follow-up period of the patient with this rare tooth structure malformation have been presented.

Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach.

This article aims to report the main clinical aspects, cone beam computed tomography (CBCT) findings, and conservative oral rehabilitation in a child born from a consanguineous marriage who presented with Hallermann-Streiff syndrome (HSS) and generalized odontodysplasia. A 5-year-old girl presented with a diagnosis of HSS for oral evaluation. Radiographically, all teeth showed wide pulp chambers and roots with thin dentinal walls and open apices, resembling ghost teeth and indicating a diagnosis of odontodysplasia. Oral rehabilitation consisted of partial dentures that were regularly adjusted to conform the device with the pattern of growth and development of the child. CBCT scan provided great insight into HSS, allowing a detailed view of the morphologic aspects and associated trabecular bone pattern. Treatment of these 2 rare conditions in young children must consider the stage of growth and development. Although extremely rare in HSS, odontodysplasia should be investigated and conservatively managed in young children.

Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndrome.

PURPOSE: To report new aspects of the phenotype including Retinal dystrophy and surgical challenges in Hallermann-Streiff Francois syndrome (HSFS). METHODS: Detailed phenotype of a female with HSFS was evaluated including skeletal changes, comprehensive eye examination, detailed ocular biometry, electroretinography and macular Ocular coherence tomography. Surgical notes of lid surgery for entropion were reviewed. Genetic screening was also done. RESULTS: Unique Ocular biometry with electroretinography changes, macular folds and fundus changes suggestive of an unreported Retinal dystrophy in a typical patient with HSFS were noted. Surgery was challenging both due to difficulty in endotracheal intubation anaesthesia because of the dento-facial abnormalities and the skin fragility. CONCLUSION: This report provides additional information especially pigmentary retinal dystrophy, macular folds and electroretinography in HSFS. The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos. The surgical difficulties and outcomes of the rarely encountered adnexal abnormalities emphasize the need for a multi disciplinary approach for appropriate management.

Hallermann-Streiff syndrome without cataract: case report from Kosova.

Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the face, the scull, the hair, the skin, the eyes, the teeth) and overall growth and development. Ophthalmic abnormalities included bilateral congenital cataract. Glaucoma is uncommon. We report a case with Hallermann-Streiffsyndrome having all the main features of the syndrome, however associated with juvenile glaucoma and without congenital cataract. An 16 year-old-boy was admitted in our hospital for surgical treatment of juvenile glaucoma. His ophthalmic features included microphthalmos, enophthalmos, short upper lid, and thin conjunctiva, edematous corneas with fine epithelial bulla, atrophic-colobomatous iris in the left eye, slightly dilated pupils and clear lenses. The right optic disc was pale and cupped (0.9-1). The left optic disc was pale. The IOP was 70 mmHg in the right eye and 62 mmHg in the left eye. There was no light perception on the right eye and 1/60 in the left improving to 0.1 with +7.0 Dsph. Antiglaucomatous therapy failed to reduce the pressure and a left trabeculecthomy was carried out. Protective eye shields during sleep were recommended to protect the corneas from dryness because of the short upper lids. In the left eye the IOP has fallen to within normal limits and the vision has improved 0.3-0.4 with +7.0 Dsph. The medical therapy was continued in the right eye but the pressure still remains high (40 mmHg).

Bilateral posterior semicircular canal dehiscence in the setting of Hallermann-Streiff syndrome.

Hallermann-Streiff syndrome, also known as oculomandibulofacial syndrome, is a rare congenital disorder affecting growth and cranial, dental, ocular, pilocutaneous, and mental development. In addition to routine audiologic testing in patients with this syndrome, high-resolution computed tomography of the temporal bones should be performed in those with documented or suspected sensorineural hearing loss. Cochlear implantation may be considered, as in other children with syndromic hearing loss and certain inner ear abnormalities, if the appropriate audiologic, psychosocial, and medical criteria are met. The current case report radiographically and clinically characterizes inner ear dysplasia in an 8-year-old patient with Hallermann-Streiff syndrome. High-resolution computed tomography of the temporal bones revealed a hypoplastic bony island between the vestibule and horizontal semicircular canals, as well as incomplete bony coverage of the posterior semicircular canal crura bilaterally. To our knowledge, this is the first report of a pediatric patient demonstrating bilateral posterior semicircular canal dehiscence.

Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report.

Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like facies and dental anomalies. A description of a 21-year-old Hispanic woman with Hallermann-Streiff syndrome, whose anterior open occlusal relationship and smile were improved with overdentures is presented. The treatment was satisfactory in terms of both esthetics and phonetics, excluding the need for aggressive surgical treatment.

Implant rehabilitation for a patient with Hallerman-Streiff syndrome: a case report.

Hallermann-Streiff syndrome is a rare genetic disorder characterized by craniofacial malformations, sparse hair, eye abnormalities, dental defects, degenerative skin changes, and short stature. The syndrome has many implications for dental treatment. Patients typically present with multiple missing and poorly formed teeth. The purpose of this case report is to discuss the overall management of a patient with Hallermann-Streiff syndrome by oral maxillofacial surgery, orthodontic treatment, and prosthodontic reconstruction.

Craniodentofacial manifestations in Hallermann-Streiff syndrome.

Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by significant craniofacial findings. Dyscephaly, microphthalmia, cataracts, hypotrichosis, cutaneous atrophy, thin pinched nose, and a typical bird-like face are the main features of the syndrome. Additional features of the syndrome include dental anomalies, micrognathia, skeletal defects, and short stature. What follows is a case report of a 10-year-old girl with HSS with special consideration on orodental findings. Clinical, radiographic, and cephalometric analysis revealed hypoplasia of the mandible, high arched palate, Class II malocclusion due to mandibular retrognathia, open bite, posterior crossbite, crowding, malformed teeth, and oligodontia. Magnetic resonance images (MRI) of the temporomandibular joints showed abnormal disks flattened with uniform thickness and deformed condyles bilaterally. Also discussed are the features of HSS with the differential diagnosis, and the dental management of the case is described.

Corneal opacities in the Hallermann-Streiff syndrome.

We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opacities are ill defined and bilateral; the stroma between the opacities is clear. The opacities are observed in two children around the age of 5. Follow up of 10 years did not reveal a manifest increase of the lesions. The authors believe that corneal stromal opacities are a feature of the Hallermann-Streiff syndrome and they would urge ophthalmologists to look for this.