HALLERMANN STREIFF PDF

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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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Early intervention is important to ensure that children with Hallermann-Streiff syndrome reach their potential. Radiologic findings in 5 cases and in the literature were reviewed by Christian et al.

Orodental findings in Hallermann-Streiff syndrome Parikh S, Gupta S – Indian J Dent Res

stgeiff Madelung’s deformity Clinodactyly Oligodactyly Polydactyly. Hallermann and Streiff reported patients with dyscephaly, a ‘bird-like’ face, congenital cataracts, and microphthalmia. In addition abnormal deposits of fat may accumulate around the buttocks, flanks, genitals and anus anogenital area.

Srinivasan LP, Viswanathan J.

Patients also have eye problems including reduced eye sizebilateral cataracts [2] and glaucoma. Other treatment is symptomatic and supportive.

Orphanet: Hallermann Streiff syndrome

CC ]. A dyscephaly with congenital cataracts and hypotrichosis. 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.

Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: Create a personal account to register for email alerts with links to free full-text articles.

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Yellowish discoloration of teeth, with microdontia and extensivecarious involvement Click here to view. Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. This article has been cited by 1 Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: In most cases, affected individuals develop premature, widespread thickening and loss of elasticity of arterial walls arteriosclerosispotentially resulting in life-threatening complications.

The greatest anesthetic challenge lies in the maintenance of an appropriate airway due to upper airway deformities which make mask ventilation, laryngeal exposure and tracheal intubation difficult. In addition, in rare cases, various structural heart malformations congenital heart defects have been reported.

Long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of HSS. There was also presence of thin, brittle hairs on scalp Figure 2. Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas.

Hallermann-Streiff syndrome was first described by Charles Aubry in Most cases of Hallermann-Streiff syndrome are sporadic.

Congenital abnormalities, Hallermann-Streiff syndrome, orodental findings. Management of the condition may also include surgical reconstruction of certain craniofacial malformations particularly in the mandibular and nasal wtreiff at an appropriate age.

Rare Disease Database

Arthrogryposis Larsen syndrome Hzllermann syndrome. Hallermann-Streiff syndrome appears to affect males and females in relatively equal numbers.

Clinical Variability Dennis et al. Corneal opacities in the Hallermann-Streiff syndrome. Difficulty in airway increases with increasing age. According to the literature this syndrome is characterized by seven classical signs, of which our patient had most: Genetic counseling may also be of benefit for affected individuals and their families.

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For information about clinical trials sponsored by private sources, contact: There are fewer than people with the syndrome worldwide. Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose. A, The right fundus showed a hyperemic haller,ann hypervascular optic nerve with engorged retinal vessels.

They pointed to the probable cases in father and daughter reported by Guyard et al. Privacy Policy Terms of Use. Abnormal softening of cartilage of the windpipe tracheomalacia has also been reported in some cases, which may further complicate swallowing and breathing difficulties.

Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more. Most cases are sporadic but some have mutations in the GJA1 gene 6qq Here we discuss a case of 9 years-old female child who presented with abnormal facial features, hzllermann problems and associated cardiac problems.

July 30, ; Accepted date: Congenital heart defects are rare in HSS. Vogelgesicht und Cataracta congenita. Further contributions to the study of the syndrome of Hallermann and Streiff. Bilateral cataracts were identified in the male.

In addition, many people with this syndrome have very sparse haallermann hypotrichosisparticularly of the scalp, eyelashes, eyebrows, beard, pubic hair, and hair under the arms.