Psychomotor development is usually normal, but exceptions do. Diagnosis and innovative multidisciplinary management of. Chromosomal and clinical features in an infant with. Dmv 65 mcp form pdf on a notice of cancellation form authorized by the dmv, and that the thirty documentation, shall be furnished to dmv upon request. If you have problems viewing pdf files, download the latest version of adobe reader. Hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia. Periodic paralysis pp is classified as hypokalemic when episodes occur in association with low potassium blood levels or as hyperkalemic when episodes can. No metabolic or chromosomal defect could be demonstrated in this patient. Click on the link to view a sample search on this topic. Introduccion hallerma n en 1948 streiff en 1950 francois en 1958audry en 1893 3. Pubmed is a searchable database of medical literature and lists journal articles that discuss hallermann streiff syndrome. Pdf a case of hallermannstreiff syndrome with aphakia. An upper eyelid retractor free recession was performed.
The patient exhibited six of the seven signs of hss. The most characteristic feature is the peculiar bird. Cardinal features of this syndrome are dyscephaly with bird facies, frontalparietal bossing, dehiscence of sutures with open fontanellae, hypotrichosis of scalp, eye brows and eye. Hallermannstreiff syndrome hss is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. The overall findings suggested hallermen streiff syndrome and full mouth rehabilitation was planned. Hallermann streiff syndrome hss is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. Hallermannstreiff syndrome is a congenital disorder that affects growth, cranial development. Abnormal facial features, dental anomalies, hallermannstreiff syndrome. Indeed, early genioplasty and dental implantation before growth completion were performed. For language access assistance, contact the ncats public information officer. Radiological findings in hallermann streiff syndrome.
We described the different patterns of the disease throughout the whole growth period and provided innovative treatment steps. We report a 12yearold female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair. Hallermannstreiff syndrome hss is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. Followup visits were performed at day 1, weeks 1 and 3, and months 3, 6, 9 for both eyes, and 12 for left eye after surgery. There are fewer than 200 people with the syndrome worldwide. Approximately 150 cases have been reported, including 6 cases in korea.
Hallermannstreiff syndrome thomas j, ragavi b s, raneesha p k. Hallermann streiff syndrome hss is a rare congenital disorder that mainly affects head and face development. The presence of natal teeth in this syndrome, do not permit effective feeding. Hallermann streiff syndrome is characterized by a typical skull shape brachycephaly with frontal bossing, hypotrichosis, microphthalmia, cataracts, beaked. A patient with the hallermannstreiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. Hallermann streiff syndrome nord national organization. Hallermannstreiff syndrome genetic and rare diseases nih. In the patients with hallermannstreiff syndrome, presence of mandibular. Bisphosphonate treatment of bone fibrous dysplaia in mccunealbright syndrome, r. The early diagnosis of hss is important for management because many complications, that are often life threatening, may occur early in this syndrome.
A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hallermannstreiff. Dental features were discussed by caspersen and warburg 1968 steele and bass 1970 emphasized the lack of. Hallermannstreiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as birdlike facies with. Francois 1958 identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature. 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 a congenital disorder that affects growth, cranial development, hair growth and dental development. Editor, hallermann streiff syndrome hss is a disorder of unknown origin rarely diagnosed in neonatal period. Brock the star hes literally 1 in 50 million youtube. Hallermann streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome. Christian cl, lachman rs, aylsworth as, fujimoto a, gorlin rj, lipson mh, graham jm. Hallermannstreiff syndrome hss is a rare congenital disorder that mainly. Maria laura alvarez aguirre espiritu santo gomez federico odontologia a pacientes discapacitados 81101 2. 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. Hallermannstreifffrancois syndrome is a rare sporadic genetic pathology.
A familial study of hallermannstreifffrancois syndrome ncbi. Hallermann 1948 and streiff 1950 reported patients with dyscephaly, a birdlike face, congenital cataracts, and microphthalmia. Francois dyscephaly syndrome,oculo mandibulo dyscephaly. Hallermann streiff syndrome hss is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis. Article information, pdf download for diagnosis and innovative. Inside he is just a normal kid who wants to play with his friends and have pretend pirate battles. Brock is diagnosed with hallermann streiff syndrome and is literally 1 in 50 million. Early detection and management of retinal detachment in other patients having hallermann streiff syndrome offer the chance of. Syndrom, acta ophthalmologica on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Hallermann streiff syndrome hss is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 5080 percent of cases.1434 888 950 207 7 163 1504 381 1593 1104 653 1393 1527 1630 507 712 1617 860 108 645 735 1586 104 1230 1514 738 324 1377 1433 147 1149 32 1598 747 239 363 1070 50 725 490