HALLERMANN STREIFF SYNDROME PDF

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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Koliopoulos and Palimeris observed 5 cases in 3 generations with male-to-male transmission.

As a result of these small deeply-seated eyes, patients may appear to have small, strwiff eyelids blepharoptosis. Harrod and Friedman were perplexed by these observations. Wiedemann-Rautenstrauch syndrome is inherited as an autosomal recessive genetic trait.

Examination of the face revealed frontal bossing, small and thin face, beaked nose with atrophy of skin near nose Figure 3,4. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.

Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. Hwllermann malformations and deformations of face and neck Q18 Srinivasan LP, Viswanathan J.

Forsius and de la Chapelle found normal chromosomes in 2 cases. Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. The strieff in the patient with HSS were no more severe than those in first-degree relatives who had only cataracts. Dennis Fairhurst Moore s Only comments written in English can be processed. Despite being a rare syndrome, this syndrome has to be considered in differential diagnosis of other syndromes.

Mirshekari and Safar described a year-old woman with Hallermqnn syndrome. CCC ]. Hzllermann information Professionals Anesthesia guidelines Englishpdf.

Most cases of Hallermann-Streiff syndrome are sporadic.

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

Fraser and Friedmann supported dominant inheritance with almost all cases being the result of fresh mutation. It may be difficult to perform root canal treatment and syndrom therapies to preserve a tooth with underdeveloped roots, and therefore these patients need appropriate, frequent pediatric dental evaluations.

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Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. These signs are 1 dyscephalia and birdlike facies, 2 dental abnormalities, 3 proportionate short stature, 4 atrophy of skin especially on the nose5 hypotrichosis, 6 bilateral microphthalmos, and 7 cataract. It is probably due to a developmental disorder in the 5 th -6 th gestational week that results in an asymmetric second branchial arch defect [ 5 ].

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

Cleft Palate Craniofac J. There was no major abnormality detected on routine hematological investigations and ultrasonography of abdomen. Intra-oral examination showed all deciduous dentition, multiple caries, enamel hypolasia Figure 5.

Arthrogryposis Larsen syndrome Rapadilino syndrome. The dental problems need thorough treatment with an interdisciplinary approach. Hallermann-Streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossinghypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short syndromf Hallermann, ; Streiff, ; Francois, Genetic counseling may also be of benefit for affected individuals and their families.

Both autosomal dominant and autosomal recessive inheritance have been postulated.

Hallermann Streiff Syndrome-The Oral Manifestations in a Child

Sur deux cas de syndrome dyscephalique a tete d’oiseau. The differential diagnosis of HSS from progeria and progeroid syndromes, mandibulofacial dysostosis, and pseudoprogeria is as follows.

Retinal detachments involving the posterior pole in Hallermann-Streiff syndrome. Johns Hopkins Press pub. Seckel syndrome inherited as an autosomal recessive genetic trait due to homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q 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.

Sgreiff, The right fundus showed a hyperemic and hypervascular optic nerve with engorged retinal vessels.

Hallermann–Streiff syndrome – Wikipedia

Ophthalmologic examination revealed bilateral microphthalmia, horizontal corneal diameters of 6 mm, and bilateral visually significant cataracts preventing view of the ocular fundi.

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Also, because individuals with Hallermann-Streiff syndrome have malformed teeth with abnormal roots and enamel hypoplasia, they are predisposed to developing severe dental caries making it imperative to ensure good dental hygiene. The options available to circumvent hallermannn problems during difficult intubation are, awake intubation, intubation over a fiberoptic bronchoscope and intubation under inhalational anesthesia.

Purchase access Subscribe now. Obstruction may result from small nares and glossoptosis secondary to micrognathia and these may lead to cor pulmonale. Other anomalies reported in such patients are skeletal defects, cardiac defects ventricular septal defect reported in our patienthematopoietic abnormalities, and pulmonary anomalies [ 9 ]. Hallermann-Streiff syndrome and pregnancy.

In some cases, the head may also be relatively small microcephaly and the cheekbones may be underdeveloped malar hypoplasia. D ICD – Further contributions to the study of the syndrome of Hallermann and Streiff. Nasal lipofilling has been used to treat the atrophy of the nasal skin, resulting in improvement in nasal skin color and texture. Most infants and children with Wiedemann-Rautenstrauch syndrome have unusually thin arms and legs; abnormally large hands and feet; progressive neurological and neuromuscular abnormalities; varying degrees of intellectual disability; and severe delays in the acquisition of skills requiring the coordination of mental and muscular activities psychomotor retardation.

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Together we are strong. It is named after German ophthalmologist Wilhelm Hallermann — and Italian-Swiss ophthalmologist Enrico Bernardo Streiff —[8] [9] [10] who first described the syndrome in and respectively. These include the absence of I auricular anomalies, II palpebral xyndrome, III premature arteriosclerosisarthrosis, deformities of joints, muscular atrophy, IV nail and extremity anomalies, and V mental retardation [ 2 ].

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In most cases, affected individuals develop premature, widespread thickening and loss of elasticity of arterial walls arteriosclerosispotentially resulting in life-threatening complications.