Say syndrome: A new Brazilian case

Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.

P56: A Case Report on a New Aicardi-Goutieres Syndrome Inducing Gene

Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...

Cogan’s Syndrome: A Case Report

Sheehan 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...

Pendred 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...