P.079 4H leukodystrophy: a case series of siblings with an unusually mild phenotype
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چکیده
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an investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles
چکیده ندارد.
15 صفحه اولInfantile hemangiomas with unusually prolonged growth phase: a case series.
BACKGROUND Most infantile hemangiomas (IHs) complete their proliferative growth phase before 9 months of age, but those with unusually prolonged growth create unique clinical challenges. We performed a retrospective case series of IHs with prolonged growth to further characterize these lesions and their treatment. OBSERVATIONS We identified 23 patients as having IHs with prolonged growth afte...
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Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation. We describe a 28-year-old female who presented with primary amenorrhea at the age of 19. She had a history of very mild neurological and dental abnor...
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same day and the wound was carbolised and dress She was sent to Ahmedabad Civil Hospital, the neaLre centre for anti-rabic treatment. The patient bet . reaching the hospital at Ahmedabad had a fit presumably was hysterical. This fit was translated ^ her attendants as the development of hydrophobia a ^ so without taking any anti-rabic treatment the Pa jjj was brought back to her village. Thereaf...
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TreacherCollins Syndrome (TCS) is a rare autosomal dominant disorder of craniofacial morphogenesis. The frequency of TCS is 1 in 50,000 live births. Approximately half of cases arise as a result of sporadic mutation; the rest are familial. TCS is caused by a mutation in a TCOFI gene on chromosomes 5q31.3-32. The severely affected persons show classic physical characteristics and mildly affected...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2019
ISSN: 0317-1671,2057-0155
DOI: 10.1017/cjn.2019.177