Disease definition. Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies ( with. Hallermann-Streiff syndrome is characterized by a typical skull shape ( brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked. Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital.
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In many cases, additional abnormalities are also present. It may be difficult to perform root canal treatment and other therapies to preserve a tooth with underdeveloped roots, and therefore these patients need appropriate, frequent pediatric dental evaluations.
Haklermann consider making a donation now and again in the future. Dyscephaly scaphocephaly or brachycephaly with frontal bossing and typical facies micrognathia, condylar aplasiaand thin pointed nose ; dental anomalies; proportionate nanism; hypotrichosis; atrophy of the skin localized to the head and nose; bilateral microphthalmia; and congenital cataracts. Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation.
Diagnosis Hallermann-Streiff syndrome may be suspected shortly after birth or during the first year of life by the identification of characteristic physical findings and symptoms. The greatest anesthetic challenge lies in the maintenance of an appropriate airway due to upper airway deformities which stdeiff mask ventilation, laryngeal exposure and tracheal intubation difficult.
OMIM Entry – % – HALLERMANN-STREIFF SYNDROME; HSS
Tracheomalacia is a complication that can lead to chronic respiratory insufficiency, resulting in biventricular cardiac failure and early death. Warburg emphasized that the diagnosis is doubtful in the absence of cataract or microphthalmia. Congenital heart defects halllermann rare in HSS. Additionally, management for certain heart defects, such as medication or surgery, may be needed. Diseases of ion channels. Koliopoulos and Palimeris observed 5 cases in 3 generations with male-to-male transmission.
Cataract and microphthalmos are the most apparent ocular features, but retinal abnormalities may be the primary streicf of poor vision.
The orodental abnormalities in the present case confirmed by radiographic examination were in the form of severely carious hypoplastic teeth, missing permanent teeth, persistent deciduous teeth, bilateral hypoplastic condyles and coronoid processes. Affected Populations Hallermann-Streiff syndrome appears to affect males and females in relatively equal numbers.
The mother reported of the child having cardiac problem streeiff septal defect for which surgery had been performed.
Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International
It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. Case Report Open Access.
Early detection and management of retinal detachment in other patients having Hallermann-Streiff syndrome offer the chance of improved visual function. About News Events Contact. The nose is typically quite narrow and pointed; with a narrow nasal bridge, small nostrils and underdeveloped nasal cartilage that tends to become more convex beaked with age.
It is a rare clinical entity of unknown etiology that affects growth, cranial development, hair growth, and dental development [ 4 ]. In almost all reported halermann, Hallermann-Streiff syndrome has occurred randomly for unknown reasons sporadicallymost likely due to a new spontaneous dominant genetic change mutation.
Rare Disease Database
Preauricular sinus and cyst. Craniodentofacial manifestations in Hallermann-Streiff syndrome. Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose. Familial cases were reported by Bueno-Sanchez who found this syndrome in 2 of 3 sibs from a consanguineous marriage, supporting autosomal recessive inheritance.
How to cite this URL: Check this box if you wish to receive a copy of your message. The etiology of the hallfrmann is unknown but it has been stated that this syndrome results from a developmental disturbance affecting the cephalic ventral extremity at the moment when development of facial bones and of lenses is at the highest degree, thus involving both ectoderm and mesoderm. This hallermanm is termed Cockayne syndrome type B CSB and caused by mutation in haolermann gene encoding the group 6 excision-repair cross-complementing protein ERCC6 on chromosome 10q Select your language of interest to view the total content in your interested language.
Vogelgesicht und Cataracta congenita. Carones ; Falls and Schull ; Schanzlin et al. The hypoplasia of condyles and coronoid processes also was found to be present in our case.