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.

Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature.

Hallermann-Streiff syndrome is a rare congenital disorder characterized by a wide spectrum of craniofacial abnormalities. A review of the available literature reveals that only approximately 200 cases of the disease have been reported worldwide. For this article, we performed a literature review as a basis for a proposed scheme for early care and treatment. A comprehensive database search was carried out with the use of Medline (PubMed), ISI Web of Science, and ScienceDirect/Scopus. Of the 551 studies initially found, an evaluation using inclusion and exclusion criteria ultimately resulted in a total of 33 articles. Most of the articles are case reports, and only approximately 20% of these articles include treatment options. We propose an early care and treatment schedule based on the presented symptoms. [Pediatr Ann. 2021;50(5):e227-e231.].

Dental Rehabilitation of a Rare Hallermann-Streiff Syndrome with Olygodontia: A Case Report / Rehabilitación dental de un caso raro de Síndrome de HallermannStreiff con Oligodoncia: Reporte de un caso

Abstract Hallermann-Streiff syndrome (HSS) is a rare oculomandibulofacial discephaly with hypotrichosis that occurs as a sporadic mutation. It is characterized by abnormal findings especially in head and face. Dental anomalies occur in 50-80% of the patients. In this case report, facial-oral findings and the existing dental anomalies of the syndrome in a 6-year-old male patient diagnosed with HSS were identified. Dental rehabilitation and a 12-month follow-up of the patient were reported. Each case presented with this rare syndrome may contribute to the literature to determine the prognosis of the disease and to take protective and preventive measures.

Resumen El síndrome de Hallermann-Streiff (HSS) es una discefalia oculomandibulofacial rara con hipotricosis que ocurre como una mutación esporádica. Se caracteriza por hallazgos anormales, especialmente en cabeza y cara. Las anomalías dentales ocurren en 50-80% de los pacientes. En este reporte de caso, se identificaron los hallazgos faciales-orales y las anomalías dentales existentes del síndrome en un paciente masculino de 6 años diagnosticado con HSS. Se informó la rehabilitación dental y un seguimiento de 12 meses del paciente. Cada caso presentado con este síndrome raro puede contribuir a la literatura para determinar el pronóstico de la enfermedad y tomar medidas de protección y prevención.

Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome.

The use of modern next-generation sequencing-based approaches for gene identification has tremendously improved our understanding of the molecular pathogenesis of the great majority of well-known syndromes, whereas only a few remain to be elucidated. Hallermann-Streiff syndrome is such a disorder for which the molecular basis is still unknown although it represents a highly recognizable phenotype. Clinically, patients with Hallermann-Streiff syndrome show typical craniofacial dysmorphism, eye malformations, a distinctive facial appearance, abnormalities of hair and skin, short stature, and, interestingly, they might also present with aspects of premature aging. The clinical diagnosis is mainly given by the very typical facial gestalt of patients. In this review, we (a) summarize the current knowledge on the phenotypic traits, focusing on described classic cases, (b) discuss the missing molecular link, and (c) present innovative future strategies for gene identification.

Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient.

Hallermann-Streiff syndrome (HSS) is a rare congenital disorder that mainly affects head and face development. We described the different patterns of the disease throughout the whole growth period and provided innovative treatment steps. Indeed, early genioplasty and dental implantation before growth completion were performed. These steps allowed to improve facial growth and to provide orthodontic anchorage, respectively. Complementary orthognathic surgery achieved satisfactory occlusion and refined aesthetics. We believe such an approach could be considered as a relevant treatment modality to complete multidisciplinary care in patients with HSS.

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.

Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases.

PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to highlight the ophthalmological features in four such patients and outcomes of cataract surgery.Patients and methodsRetrospective review of medical records of patients with cataract and/or microcornea due to HSS was done. Presenting features, ocular findings, ocular motility and visual outcomes were noted.ResultsWe identified four children with microcornea/cataract who had associated clinical features suggestive of HSS. Mean age at presentation was 25.5±27.8 months. Three children presented with poor vision in both eyes and one with strabismus. All patients had a microcornea and microphthalmos. Three patients had a membranous cataract. Horizontal corneal diameter ranged from 5.5 to 10.5 mm and axial length ranged from 12 to 18 mm. Three patients had associated strabismus. Three patients underwent lens extraction and two underwent strabismus surgery. Best corrected visual acuity (BCVA) improved from fixing, following light to a median post-operative BCVA of 20/380. One eye developed retinal detachment.ConclusionChildren with HSS present with membranous cataracts, microcornea and microphthalmos and present surgical challenges. Though the patients were mostly left aphakic, all showed moderate visual improvement.

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).

Congenital atrichia and hypotrichosis.

BACKGROUND: Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician. DATA SOURCES: An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases. RESULTS: In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis. CONCLUSIONS: In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

Hallermann-Streiff syndrome: a case report from Georgia.

We report a 9 years and 6 month old boy with the Hallermann-Streiff syndrome (HSS). The patient was referred by a pediatrician. The diagnosis was established by endocrinologist based on the presence of specific facial gestalt (bird-like face) and bilateral congenital cataracts. The patient was not short, but had mild mental retardation; hypotrichosis was represented by Sign of Hertoghe (Queen Anne's sign) only. Thyroid function was normal. X-ray study yielded valuable data. The night apnoea (secondary to the dyscephalic narrowing of the upper airways) constituted the major concern. We also discuss diagnostic criteria for the HSS along with significance of various clinical signs. Combination of specific facial gestalt and ocular abnormalities should be particularly alarming. Endocrine aspects of the HSS are reviewed. X-ray study is recommended as an inexpensive and readily available but informative tool.

Hallermann-Streiff syndrome: case report and literature review.

Hallermann-Streiff syndrome is a rare genetic disorder characterized primarily by head and face abnormalities. Patients show birdlike faces; hypotrichosis; various ophthalmic disorders; and dental abnormalities including absence of teeth, natal and neonatal teeth, enamel hypoplasia, and supernumerary teeth. In addition, delayed eruption of existing teeth and severe agenesis of permanent teeth are frequent findings. Dental and hereditary disorders can be associated with disturbances during tooth development and cause shortened roots. Short roots are a rare developmental anomaly in the permanent dentition, and the etiology is not well established. The generalized form is extremely rare. Generalized diminished root formation can lead to early loss of teeth. This article provides a case report of a 9-year-old boy with Hallermann-Streiff syndrome. Extraoral examination revealed a brachycephalic head, proportionate short stature, sparse hair, and atrophic skin. His face was characterized by a thin beak-shaped nose and retrognathia, resulting in a characteristic birdlike appearance. Radiographically, all teeth of the permanent dentition showed severely underdeveloped roots and partially underdeveloped crowns. The predisposition to severe dental caries and dental malformations makes it imperative to schedule effective prevention measures, especially since root canal treatment to preserve teeth can be hampered due to underdeveloped roots.

[Bilateral retinal detachment in Hallermann-Streiff-François syndrome: a case report]. / Décollement de rétine bilatéral dans le syndrome d'Hallermann-Streiff-François : à propos d'un cas.

We report the case of a patient with Hallermann-Streiff-François syndrome, with typical presentation of white bilateral cataract. The surgical treatment showed morphological retinal abnormalities, which resulted in an exudative retinal detachment. This case underscores the importance of paying special attention during surgical treatment of cataract in this type of patient.

Hallermann-Streiff syndrome with hemihypertrophy.

We report on a five year old girl with Hallermann-Streiff syndrome and hemihypertrophy. Hemihypertrophy does not appear to have ever been associated with Hallermann-Streiff syndrome.

Hallermann-Streiff Syndrome: A case report from Turkey

Hallermann-Streiff Syndrome (HSS) is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 50-80 percent of cases. The first description seems to have been made by Aubry in 1893. HSS was first described completely in 1948 by Hallermann, and then in 1950 by Streiff. We report a 4-year-old girl with HSS, presenting orodental characteristics and describe the treatment modalities. An interdisciplinary approach including early preventive-care programmes, detailed oral hygiene instructions, dietary recommendations, counselling of the parents and regular dental visits are the essential procedures (AU)

Hallermann-Streiff Syndrome: a case report from Turkey.

Hallermann-Streiff Syndrome (HSS) is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 50-80 percent of cases. The first description seems to have been made by Aubry in 1893. HSS was first described completely in 1948 by Hallermann, and then in 1950 by Streiff. We report a 4-year-old girl with HSS, presenting oro-dental characteristics and describe the treatment modalities. An interdisciplinary approach including early preventive-care programmes, detailed oral hygiene instructions, dietary recommendations, counselling of the parents and regular dental visits are the essential procedures.

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients. Both of them have respiratory problems secondary to the classical narrow upper airway described in this syndrome. Both these patients have laterality defects and one has additional structural cardiac malformations. Cardiac defects have occasionally been reported in the HSS literature, but are not considered as a classical feature of the syndrome. Situs inversus has never been reported in this syndrome. Almost all HSS cases have been sporadic and their origin and inheritance pattern remain unknown.