Hallermann-Streiff syndrome.
نویسندگان
چکیده
OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies eyelashes, sparse, madarosis Cardio-cutaneous-facio-oculo-skeletal disorder. Short stature, small face, macrocrania, narrow/small/beaked/ pinched nose, very small mandible, cataract, microphthalmos, choroidoretinal changes, strabismus, dental anomalies, hypotrichosis. Occasionally congenital heart defects.
منابع مشابه
Hallermann Streiff Syndrome-The Oral Manifestations in a Child
Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial region, sparse hair, eye abnormalities, dental defects, atrophic skin changes and a proportionate short stature. Here we discuss a case of 9 years-old female child who presented with abnormal facial features, dental problems and associated cardiac pro...
متن کاملA familial study of Hallermann–Streiff–François syndrome
Hallermann-Streiff-François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a "bird-like head". We hereby report a case of this syndrome found in three generations of the same family - father, daughter, and grand-daughter - who presented with a short stature and facial dysmorphic features, nystagmus, cataract...
متن کاملMid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome
UNLABELLED We report on a 5-year-old girl who presented with the full clinical criteria of Hallermann-Streiff syndrome (HSS). Classically, overtubulation (thin and gracile) bones are the characteristic and constant features in HSS. Interestingly, our present patient manifested unusual mid-diaphyseal endosteal thickening with subsequent medullary narrowing (defective endosteal resorption). To th...
متن کاملHallermann-Streiff Syndrome: a case report from Turkey.
Hallermann-Streiff Syndrome (HSS) is a rare disorder characterized primarily by head and face abnormalities, with dental abnormalities also present in 50-80 percent of cases. The first description seems to have been made by Aubry in 1893. HSS was first described completely in 1948 by Hallermann, and then in 1950 by Streiff. We report a 4-year-old girl with HSS, presenting oro-dental characteris...
متن کاملA case of Hallermann-Streiff-François syndrome: an ophthalmological perspective
Malta Medical Journal Volume 29 Issue 02 2017 Abstract Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age. The ophthalmologist has an important role in helping to establish a diagnosis and to recognize the need for early tre...
متن کاملObstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome.
A 26 yr old puerperal female with Hallermann-Streiff syndrome developed serious obstructive sleep apnoea syndrome during pregnancy. She underwent an elective Caesarean section delivery, but ending the pregnancy did not improve her clinical symptoms. By treating her with nasal continuous positive airway pressure, a worsening of her headaches and glaucoma was prevented. The administration of acet...
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ورودعنوان ژورنال:
- Indian journal of ophthalmology
دوره 41 2 شماره
صفحات -
تاریخ انتشار 1992