Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report.

RATIONALE: Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature. PATIENT CONCERNS: A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision. DIAGNOSES: The final diagnosis of presented case is HSS having the main features of the syndrome, however, associated with uncommon ocular features, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT)changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy. INTERVENTIONS: Antiglaucomatous medical therapy failed to reduce the pressure in the right eye and a cyclocryotherapy was carried out. The antiglaucoma eye drops was continued in the left eye. OUTCOMES: The intraocular pressure has been reduced to the normal range, but the vision has not improved. LESSONS: In the diagnosis of HSS, we should not ignore the extraordinary information especially uncommon ophthalmic features, UBM and OCT changes. We highlight the necessity of a multidisciplinary approach for accurate diagnosis and appropriate management.

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.

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: 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.

[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.

Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case.

The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius.

Ultrasound biomicroscopic findings in hallerman-streiff syndrome.

PURPOSE: To demonstrate the usefulness of ultrasound biomicroscopy in detecting the morphological changes in the lens caused by the spontaneous absorption of lens material and to detect fundus abnormalities in a patient with Hallermann-Streiff syndrome. METHODS: Case report of an infant diagnosed at the age of 2 months as having Hallermann-Streiff syndrome. RESULTS: Spontaneous lens absorption occurred during the course of follow-up and was detected only by ultrasound biomicroscopy after the patient was prepared for cataract surgery. The changes in the anterior chamber depth and lens shapes were documented by ultrasound biomicroscopy. Retinal folds that were barely observable by conventional ophthalmoscopy because of a dense cataract were clearly shown by ultrasound biomicroscopy. CONCLUSIONS: Ultrasound biomicroscopy can be used to examine the lenses of eyes that are not observable with conventional optical instruments. Ultrasound biomicroscopy can also be used to study the posterior segment of microphthalmic eyes. We recommend preoperative ultrasound biomicroscopy to prevent unnecessary anesthesia and surgical preparation.

Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs.

We report on a family in which 1 males infant who died neonatally and 1 female fetus at 29 weeks of gestation had an identical condition resembling Hallermann-Streiff syndrome. The long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of Hallermann-Streiff syndrome. Bilateral cataracts were identified in the male. We regard the condition in this family as a severe form of Hallermann-Streiff syndrome, which appears to have been lethal, at least in the liveborn male. This syndrome is usually sporadic. Recurrence in sibs suggests the possibility of autosomal-recessive inheritance, or of a dominant mutation with parental mosaicism.

[A case of Hallermann-Streiff syndrome with rapidly fatal course]. / Su di un caso di sindrome di Hallermann-Streiff ad evoluzione rapidamente fatale.

The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, micrognathia and proportionate short stature. The most severe complication in the syndrome is respiratory embarrassment. Narrow air passage with abnormal glottic closure, prenatal growth deficiency, immunodeficiency and sometimes associated cardiovascular anomalies, can predispose these patients to pulmonary infections. The Authors describe a new-born with Hallermann-Streiff syndrome, who, after a brief period of obstructive apnea successfully treated with CPAP, developed a severe pulmonary infection that caused his death at the age of 61 days.

Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature.

Hallermann-Streiff syndrome (HSS) is a rare disorder with an associated constellation of radiological findings that may aid in the diagnosis of affected individuals. We reviewed the skeletal surveys of 5 affected individuals and noted some characteristic and constant findings. Radiological findings can include a large, poorly ossified skull with decreased ossification in the sutural areas. There was an increase in the number of Wormian bones. Severe mid-facial hypoplasia was present along with a prominent nasal bone. The skull films also showed an abnormally obtuse or nearly straight gonial angle. The teeth appeared small. The long bones were thin and gracile in appearance and often showed poor demarcation of the cortex from the medullary portion. Abnormal bowing of the radius and ulna was seen neonatally in 2 cases. There was widening at the metaphyseal ends of the long bones. The ribs were thin, but normal in length. The vertebral bodies were noted to be small and 3 cases had platyspondyly. There was a decreased number of sternal ossification enters. The metacarpals were also thin and gracile in appearance with metaphyseal widening. We conclude that these characteristic radiological findings in the newborn with HSS can aid in the diagnosis, and a skeletal survey in suspected individuals may be valuable in confirming the diagnosis.

Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome.

The risk of respiratory death in the Hallermann-Streiff syndrome is not insignificant, particularly in the neonatal period and in infancy. Upper airway obstruction may result from small nares and glossoptosis secondary to micrognathia, which sometimes lead to cor pulmonale. I report on a patient with such problems.

Dental radiographic signs characteristic to Hallermann-Streiff syndrome.

A review of the literature and examination of a personally observed case led to the conclusion that anterior displacement of the temporomandibular joints provides a useful diagnostic criterion for the Hallermann-Streiff syndrome.

Extensive wormian bones in a patient with the Hallermann-Streiff syndrome.

A case is reported of a 5-month-old girl with Hallermann-Streiff syndrome who was evaluated for possible premature closure of the cranial sutures. Skull radiographs revealed numerous Wormian bones along sutures in the parietal skull bilaterally. Hallermann-Streiff syndrome is added to the list of diseases in which extensive Wormian bones can appear.

Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome.

A case of Hallermann-Streiff syndrome (HSS) is presented. The syndrome characteristics and differential diagnoses are reviewed. Diagnosis and correction of the maxillofacial deformities of this case is described. In light of this experience, surgical and anesthetic considerations are discussed.

Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms.

This paper analyzes the craniofacial morphology in a patient with typical Hallermann-Streiff syndrome (HSS) who developed symptomatic cardiorespiratory deficiency at the age of 48 years. The patient had obstructive sleep apnea (OSA), hypoxia, hypercarbia, pulmonary hypertension, tricuspid insufficiency, and right ventricular failure. Analysis of cephalometric roentgenograms, done 15 years earlier, revealed severe mandibular hypoplasia with marked underdevelopment of the ramus and body. The gonial angle was abnormally obtuse. The condylar and coronoid processes were reduced in size. The anteroposterior dimension of the upper airway was markedly narrowed. Cephalometric roentgenograms of six other HSS patients from our clinic were compared to those of the reference patient. Considerable variation in the features of the syndrome were noted. None of the other patients showed definitive airway obstruction. Comparison was also made with cephalometric roentgenograms of a patient with Treacher Collins syndrome and of a patient with progeria. The former showed airway obstruction associated with a deformed hypoplastic mandible; the latter had an unobstructed airway despite a small mandible because of associated hypoplasia of the maxilla and tongue. The HSS reference patient improved after oxygen therapy, diuretics, antibiotics, and relief of OSA. Patients with HSS, as well as those with Treacher Collins syndrome, appear to be at risk for the development of cardiopulmonary disease if they have obstructed airways. OSA has been shown to have developed in two patients with HSS. The resultant cardiopulmonary insufficiency of such patients may be preventable if airway obstruction can be relieved relatively early in life.