A Rare Case Report: Weill Marchesani Syndrome
Journal Title: Scholars Journal of Medical Case Reports - Year 2014, Vol 2, Issue 8
Abstract
A 21 year old female came with defective vision for 10 years. She also had short stature (height 126 cm) with short and stubby fingers in both limbs. Anterior segment slit lamp examination revealed shallow anterior chamber, microspherophakia with superonasal subluxation in right eye and superotemporal subluxation in left eye respectively with normal fundus. Keratometry reading and axial length was +44.75D , 22.30mm in right eye and +45.25D, 22.11mm in left eye. Intraocular pressure by Goldmann applanation showed 20 mmhg and 34 mmhg respectively. On UBM with 50HZ probe we found decreased anterior chamber, narrow angle of anterior chamber, increased lenticular sphericity, sparse zonules in both eyes and subluxation of lens in both eyes. She was diagnosed with Weill-Marchesani syndrome (WMS) a connective tissue disorder that usually presents in childhood with short stature and ocular problems. The major features of Weill-Marchesani syndrome are short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Keywords: Weill-Marchesani syndrome, defective vision, microspherophakia
Authors and Affiliations
Siddharam Janti, Adnan Matheen, Charanya. C, Pandurangan. R
Keywords
Related Articles
- EP ID EP375378
- DOI -
- Views 69
- Downloads 0
A Rare Case of Omphalocele (Exomphalos) of Intestine and Liver
Omphalocele is one of the most common congenital abdominal wall defects. It is normally associated with other anomalies and isolated cases of omphalocele are rare. It is frequently detected prenatally due to routine mat...
Large Placental Chorangiomas: Rare Case Report
In clinical practice, constipation is a common complaint and rarely secondary to endocrine or metabolic causes. We present here a case of an elderly male who presented with constipation was found to be having hypercalcem...
Does So Frequent Use Of It Make Innocent? Another Brick In The Wall: Serum Sickness Induced By Horse-Antithymocyte Globulin In A Patient With Bone Marrow Failure
Abstract:Aplastic anemia is a condition characterized by the absence or decrease of hematopoietic progenitor cells in the bone marrow. The disease is considered to occur as a result of immune response triggered by the en...
Emphysematous Pyelonephritis
Diabetes mellitus is affecting people around the globe. It is increasing in epidemic proportion in South East Asia. At the same time complications of diabetes are increasing. Life threatening complication like Emphysemat...
A case report on the management of a rare case of a giant intraabdominal testicular tumour
A case of malignant change within an intra-abdominal testis is reported. The development in a 30 year old man of a malignant testicular lesion (seminoma) on histological examination, the absence of serum tumour markers i...