منابع مشابه
Sjögren-Larsson syndrome in two brothers: a case report
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...
متن کاملSjögren-Larsson syndrome: a case report and literature review.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results ...
متن کاملSheehan Syndrome: A Case Report
'rwo cases of post-partum amenorrhea with other clinical signs of She1ehan syndrom was studied at the Loghmandoleh Medical Center, National University of Iran. Clinical diagnosis was confirmed by appropriate laboratory work -up in the f.irSlt case and the patient was placed on the conventional end orga.n hormon substitutional therapy (Thyroid -Gonad -Adrenal) and was discharged in good cond...
متن کاملPendred Syndrome: A Case Report
In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
متن کاملApert Syndrome: A Case Report
Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.
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ژورنال
عنوان ژورنال: Bangladesh Journal of Child Health
سال: 2017
ISSN: 2408-8315,0257-3490
DOI: 10.3329/bjch.v39i2.31542