Hallermann-Streiff syndrome (HSS) is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region;. Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair. Hallermann-Streiff syndrome is characterized by a typical skull shape ( brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked.

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In a review, Cohen pointed out that all cases have been sporadic, that the disorder has been both concordant and discordant in monozygotic twins, and that an affected female with 2 normal children was reported by Ponte Harrod and Friedman were perplexed by these observations.

Macular Retinal Detachment in Hallermann-Streiff Syndrome

Johns Hopkins Press pub. Int J Oral Maxillofac Surg. Early intervention is important to ensure that children with Hallermann-Streiff syndrome reach their potential. The options available to circumvent the problems during difficult intubation are, awake intubation, sydrome over a fiberoptic bronchoscope and intubation under inhalational anesthesia.

Clinical Variability Dennis et al.

She exhibited microcephaly with birdlike facies, natal teeth, sparse fine hair, and long hyperextensible fingers consistent with features of Hallermann-Streiff syndrome Figure 1. Autosomal dominant inheritance has been suggested in some synrome. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.


Additionally, management for certain heart defects, such as medication or surgery, may be needed. Wiedemann-Rautenstrauch syndrome is inherited as an autosomal recessive genetic trait.

Hallermann–Streiff syndrome

Steele and Bass emphasized the lack of mandibular angle and hypoplasia of the clavicles and ribs. In all but 3 of these, the affected persons were sibs. Detailed information Professionals Anesthesia guidelines Englishpdf.

Retin Cases Brief Rep. A proposito de una presentacion familiar. Indirect ophthalmoscopy revealed bilateral macular serous retinal detachments with horizontal retinal folds through the macula, as well as peripapillary and peripheral retinal pigment epithelial mottling Figure 2.

There was also presence of thin, brittle hairs on scalp Figure 2. Obstruction may result from small nares and glossoptosis secondary to micrognathia and these may lead to cor pulmonale.

Some current clinical trials also are posted on the following page on the NORD website: Such ocular defects may result in varying degrees of visual impairment or, in some cases, blindness. For information about clinical trials conducted in Europe, contact: Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified sundrome exome sequencing in a single patient only.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child | OMICS International

Forsius and de la Chapelle found normal chromosomes in 2 cases. Such congenital heart defects have included an abnormal opening in the partition septum that separates the lower or upper chambers of the heart ventricular or atrial septal defects or abnormal narrowing of the opening between the pulmonary artery and the right ventricle of the heart pulmonary stenosis.


Treatments centre around the particular symptoms in each individual. Sur deux cas de syndrome dyscephalique a tete d’oiseau.

Robinow also emphasized the risks of problems with upper airway obstruction in HSS, particularly in the neonatal period and in infancy. Pharmaceutical Sciences Journals Ann Jose ankara escort. Koliopoulos and Palimeris observed 5 cases in 3 generations with male-to-male transmission.

Select your language of interest to view the total content in your interested language. The dental problems need thorough treatment with an interdisciplinary approach.

Government funding, and some supported by private industry, are posted on this government website. According to the literature this syndrome is characterized by seven classical signs, of which our patient had most: Srinivasan LP, Viswanathan J.

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