Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
نویسندگان
چکیده
منابع مشابه
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 کاملLeigh Syndrome: An Unusual Rare Case Report
Leigh syndrome is a rare inherited neurometabolic subacute necrotizing encephalopathy mostly involving brainstem and basal ganglia, seen in the early childhood. It is characterized by progressive loss of mental and movement abilities associated with abnormal muscle tone, weakness, visual loss and respiratory failure. There is no effective treatment for this condition, as such the prognosis of t...
متن کاملUnusual presentation of the Conn\'s syndrome: a case report
Abstract A 26 -year- old woman presented with rhabdomyolysis secondary to severe hypokalemia. Hypertension and metabolic alkalosis could lead to the suspicion of primary aldosteronism, which was confirmed by a decreased plasma rennin, elevated plasma aldosterone levels and high aldosterone/rennin ratio additionally. Additionally adrenal computed tomography showed an adrenal tumour. Blood press...
متن کاملPrepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
متن کاملOral-facial-digital syndrome.
Papillon-Leage and Psaume in 1954 reported a 'hereditary malformation of the buccal mucous membrane, and abnormal frena' (Papillon-Leage and Psaume, 1954a). Other French and German authors have since published full accounts of this condition, and Gorlin and Pindborg (1964) have summarized current knowledge of the syndrome in a recent textbook. They described it under the heading of orodigitofac...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2013
ISSN: 0972-2327
DOI: 10.4103/0972-2327.112502