Robinow syndrome with variable neurologic features
نویسندگان
چکیده
منابع مشابه
Unusual traits associated with Robinow syndrome.
We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 pos...
متن کاملEvolution of neurologic features in Williams syndrome.
As a part of a large multidisciplinary clinical and research follow-up study, 47 Williams syndrome patients underwent detailed neurologic testing. Because previous studies have documented the absence of major neurologic signs in Williams syndrome, the neurologic testing focused on soft signs. Previous findings of impairment of both gross and fine motor coordination were confirmed, and the prese...
متن کاملjoubert syndrome with variable features: presentation of two cases
how to cite this article: barzegar m, malaki m, sadegi-hokmabadi e. joubert syndrome with variable features: presentation of two cases. iran j child neurol. 2013 spring;7(2):43-46. abstract joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. we present two cases of this sy...
متن کاملDeletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.
To the Editor : Microdeletions at 1q41q42.1 have been described in patients with a variable phenotype that in some cases is suggestive of Fryns syndrome (FS) (1). We have described a similar microdeletion (2) in a boy (hereafter named Patient 1) with clinical features of the dominant form of Robinow syndrome (DRS; 3–5). Here, we report a girl (Patient 2; Fig1a-c) diagnosed as having DRS based o...
متن کاملSurgical Management of Facial Features of Robinow Syndrome: A Case Report
BACKGROUND Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage gr...
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: Genetics in Medicine
سال: 2006
ISSN: 1098-3600,1530-0366
DOI: 10.1097/01.gim.0000195294.57969.92