Hurler’s disease presenting with quadriparesis and short stature
نویسندگان
چکیده
منابع مشابه
Melnick- needles osteodysplasty presenting with quadriparesis.
Melnick-Needles syndrome or osteodysplasty, a monogenic heritable bone dysplasia, is characterized by a typical facies and characteristic radiological findings. Less than 70 well-documented cases have been reported in literature; most of them were sporadic. We report the first case from Eastern India in an adolescent male, who had cranio-vertebral junction anomalies and presented with spastic q...
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Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and A...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2021
ISSN: 2349-3291,2349-3283
DOI: 10.18203/2349-3291.ijcp20211687