TITLE

Lenz microphthalmic syndrome in an Indian patient

AUTHOR(S)
Gupta, Arvind; Srinivasan, Renuka; Pandian, Datta G.; Babu, K. Ramesh
PUB. DATE
November 2007
SOURCE
Indian Journal of Ophthalmology;Nov2007, Vol. 55 Issue 6, p462
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.
ACCESSION #
27260107

 

Related Articles

  • A Case with Microphthalmia and Multiple Congenital Anomalies. Sarı, Ayça; Dinç, Erdem; Kılınç, Olgu Hallıoğlu // Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi;Dec2013, Vol. 43 Issue 6, p468 

    We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital dysplasia, oculofaciocardiodental syndrome,...

  • Preterm Diagnosis of Choristoma and Choroidal Coloboma in Goldenhar's Syndrome. Herwig, Martina C.; Gembruch, Ulrich; Born, Mark; Gevensleben, Heidrun; Loeffler, Karin U.; Müller, Annette M. // Pediatric & Developmental Pathology;Jul/Aug2011, Vol. 14 Issue 4, p322 

    In addition to general pathological findings characteristic of Goldenhar's syndrome, we report ocular findings in a 22-week-old fetus with hemifacial microsomia, endorsing this diagnosis. After abortion the fetus was examined via a standard paidopathological autopsy including ophthalmopathologic...

  • Microphthalmos, orbital cyst, and missing thumbs: A rare case report. Afghani, Tayyab; Mansoor, Hassan; Shehzad, Waseem // Oman Journal of Ophthalmology;Sep-Dec2015, Vol. 8 Issue 3, p194 

    A 5-month-old girl was presented to us with a right orbital cyst covering a microphthalmic eye, absent digits (thumbs) in both hands, and absence of right radius and left kidney. The hematological profile of the patient was within normal limits. The patient had a family history of leukemia and...

  • Microphthalmos, orbital cyst, and missing thumbs: A rare case report. Afghani, Tayyab; Mansoor, Hassan; Shehzad, Waseem // Oman Journal of Ophthalmology;Oct2015, Vol. 8 Issue 3, p194 

    A 5-month-old girl was presented to us with a right orbital cyst covering a microphthalmic eye, absent digits (thumbs) in both hands, and absence of right radius and left kidney. The hematological profile of the patient was within normal limits. The patient had a family history of leukemia and...

  • Small Spirits: Native American Dolls from the National Museum of the American Indian (Book). Neale, Gay // Library Journal;10/15/2004, Vol. 129 Issue 17, p60 

    Reviews the book "Small Spirits: Native American Dolls from the National Museum of the American Indian," by Mary Jane Lenz.

  • Kallmann's syndrome. Lightman, S. // Journal of the Royal Society of Medicine;Jun1988, Vol. 81 Issue 6, p315 

    The article provides a historical background on the discovery Kallmann's syndrome, a condition associated with the occurrence of hypogonadism and anosmia in a patient. It was a Spanish pathologist, Maestre de San Juan who first provide a description of the syndrome in 1856. Meanwhile, it was...

  • Lenzing plant Einstieg in Indien. R. P. // Textilwirtschaft;3/4/2010, Issue 9, p52 

    The article reports that Austrian textile manufacturer Lenzing plans a joint venture with Indian firm Modi Group for an entrance into expanding Indian markets.

  • Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Horn, Denise; Chyrek, Magdalena; Kleier, Saskia; Lüttgen, Sabine; Bolz, Hanno; Hinkel, Georg-Klaus; Korenke, Georg Christoph; Rieß, Angelika; Schell-Apacik, Can; Tinschert, Sigrid; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kutsche, Kerstin // European Journal of Human Genetics;May2005, Vol. 13 Issue 5, p563 

    Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition with male lethality characterized by microphthalmia, congenital cataracts, facial dysmorphic features, congenital heart defects, and dental anomalies. Mutations in BCOR (BCL6 co-repressor) located in Xp11.4 have been...

  • BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, François-Guillaume // European Journal of Human Genetics;Oct2009, Vol. 17 Issue 10, p1325 

    Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene...

  • Anophthalmia and microphthalmia. Verma, Amit S.; FitzPatrick, David R. // Orphanet Journal of Rare Diseases;2007, Vol. 2, p47 

    Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics