Hallermann Streiff syndrome: ‘Bird faced’ but not ‘bird brained’
نویسندگان
چکیده
منابع مشابه
Hallermann-Streiff syndrome.
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 ...
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symmetric changes, and lack of symptoms, we suspected a metabolic storage disorder. Laboratory test results showed normal levels of -galactosidase, arylsulfatase A, hexosaminidase A and B, and -galactocerebrosidase.However, sialic acid levelswere elevated in the urine. Examination results of a skin biopsy specimen revealed a fibroblast -neuraminidase level of 0.5 nmoles/h per milligram of prote...
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The cranial sutures have delayed ossification and fontanelles remain open for a long time and as a result brachycephaly occurs with frontal and parietal bossing and thin calvarium, facial bones are hypoplastic, small beaked nose with receeding, hypoplastic mouth and chin. Low-set ears, thin and light hair, hypotrichosis of scalp, eyebrows and eye lashes, micro-opthalmia with congenital cataract...
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The Hallermann-Streiff syndrome is a complex association of developmental anomalies principally involving structures of ectodermal origin. The constant expressions of the syndrome are dyscephaly with mandibulo-facial malformation, bilateral congenital cataracts, and dental anomalies, while hypotrichosis, cutaneous atrophy, microphthalmos, and proportionate dwarfism are frequently present (Table...
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Dear Editor, Hallermann-Streiff Syndrome (HSS) is a rare genetic condition with multiple systemic involvement chiefly affecting the head and face and includes seven basic signs: dyscephalia and bird-like face, proportionate dwarfism, dental anomalies, atrophy of skin (especially on the nose), hypotrichosis, microphthalmia and congenital cataracts [1,2]. The Brown-McLean Syndrome (BMLS) is a cli...
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2018
ISSN: 0377-1237
DOI: 10.1016/j.mjafi.2017.02.005