Mosaicism in Osteopathia Striata with Cranial Sclerosis
نویسندگان
چکیده
منابع مشابه
Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient
Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear bone dysplasia at the long bone radiographically and sclerotic change at the cranium. The purpose of this case report is to study the symptoms and treatments of osteomyelitis in a patient with OS-CS. A 41-year-old patient had pus discharge from a fistula at the mental region and increase in radiolucencies with sequest...
متن کاملPrenatal diagnosis of osteopathia striata with cranial sclerosis.
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder resulting mutation in the WTX gene. Clinically, OSCS presents with linear striations in the metaphyseal region of the long bones and pelvis in combination with sclerosis of the cranium and face. A twenty-seven year old G5T1P3A0L2 woman with a history of periand neonatal infant male deaths was referred...
متن کاملCT of the temporal bone in a patient with osteopathia striata and cranial sclerosis.
The authors present a case of congenital dysplasia affecting the long bones, skull, and other systems in a 7-year-old girl, with special attention to CT of the temporal bone, which showed abnormal ossicle fixation, a narrowed Eustachian canal, thickened sclerotic bone, and a small mastoid antrum and middle ear cavity. CT of the temporal bone can help one distinguish the etiologies of hearing lo...
متن کاملA case of osteopathia striata.
A girl aged three years was first seen on account of nasal obstruction and recurring bronchitis. Birth had been difficult because of a large head, and delivery was completed with the aid of forceps. The neonatal period was stormy ; she had pneumonia and feeding was difficult because of nasal obstruction. Some improvement took place after the first month, but the feeding difficulty persisted and...
متن کاملOsteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X-linked gene WTX (FAM123B, AMER1). Females present with longitudinal striations of sclerotic bone along the long axis of long bones and cranial sclerosis, with a high prevalence of cleft palate and hearing loss. Intellectual disability or neur...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2010
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2009-2343