Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

نویسندگان

  • M D King
  • C L Gummer
  • J B Stephenson
چکیده

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive neurotrichocutaneous syndrome of Pollitt, of which eight cases have been previously reported.

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

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Report of two unrelated cases of Familial Thrombotic Thrombocytopeic Purpura

Thrombotic Thrombocytopenic Purpura (TTP) is a rare microangiopathic disorder characterised by the pentad of microangiopathic hemolytic anemia, thrombocytopenic purpura, neurologic abnormalities, fever, and renal disease. Decreased production and/or activity of ADAMTS13 is the cause of this disorder. ADAMTS13 is a metalloproteinase which is responsible of the cleavage of high weight multimers o...

متن کامل

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine...

متن کامل

Pollitt syndrome patients carry mutation in TTDN1

Complete human genome sequencing was used to identify the causative mutation in a family with Pollitt syndrome (MIM #275550), comprising two non-consanguineous parents and their two affected children. The patient's symptoms were reminiscent of the non-photosensitive form of recessively inherited trichothiodystrophy (TTD). A mutation in the TTDN1/C7orf11 gene, a gene that is known to be involved...

متن کامل

Papillon-Lefevre syndrome: A report of two cases in a family

Palmoplantar keratodermas are a heterogenous group of diseases, one of them is Papillon-Lefevre Syndrome (PLS). This rare disease is inherited as autosomal recessive and characterized by focal hyperkeratotic plaques on elbows and knees, severe periodontal disease resulting in premature loss of teeth. We report two brothers with PLS who did not have a history of this disease in their famil...

متن کامل

Successful Surgical Treatment for Vaginal Agenesis: Report of Two Cases of Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome

Introduction: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare disorder in women which identified as agenesis of vagina and hypoplasia or agenesis of uterine. Case presentation: in this study, two female cases (17, and 19 years old) diagnosed with MRKH (first one type 2, and second one type 1) are described. Both patients were presented with amenorrhea, and absence of vagina orifice. On...

متن کامل

ذخیره در منابع من


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

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

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 21 4  شماره 

صفحات  -

تاریخ انتشار 1984