menkes' syndrome: report of a case

نویسندگان

seyyed mohammad rafiei from the departments of pediatrics , shiraz university of medical sciences, shiraz, islamic republic of iran.

siroos zodjaji from the departments radiology shiraz university of medical sciences, shiraz, islamic republic of iran.

چکیده

an 8 month old boy is presented with clinical and laboratory features of menkes' kinky hair syndrome. a brief discussion ensues.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A Case Report of a Syndrome

Un cas de Syndrome de Rubinst.ein-Taybi  Un enfant age de 13 mois s'adres'se pour des troubles digestifs et respiratoires. Il presenfait un elargissements de Ia phalange -terminale du ponce et du gros orteil, la voute palatine ogi­vale, et -une dysmorphie faciale caracteris­tique: nez aquilin obliquite anti -maJ ourlees et implantee-s basses. Le retard mental nez avcc un retard statural moins ...

متن کامل

Nicolau syndrome: report of a case

Nicolausyndrome or embolia cutis medicamentosa is a rare complication of intramuscular injection of some drugs. This syndrome has been reported after injection of NSAIDS, corticosteroids and antibiotics.Here we report a 16-year-old boy who developed this syndrome after intramuscular injection of benzathine penicillin.

متن کامل

A Case Report of Kartagener Syndrome

Primary Ciliary Dyskinesia (PCD) and Kartagener Syndrome (KS) are rare genetic disorders. PCD occurs in patients with recurrent sino-pulmonary infection, dextrocardia, chronic vasomotor rhinitis, and bronchiectasis. This study reports a rare case of KS for having further awareness of this disease. According to this study, this disease should be considered in patients with recurrent respiratory ...

متن کامل

A case report of variant scimitar syndrome

Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...

متن کامل

A case report of beckwith-wiedemann syndrome

beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...

متن کامل

MENKES\' SYNDROME: REPORT OF A CASE

An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.

متن کامل

LEOPARD syndrome: Report of a case

LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman wi...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
medical journal of islamic republic of iran

جلد ۱۱، شماره ۳، صفحات ۲۴۵-۲۴۸

کلمات کلیدی

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023