Literature DB >> 23543842

A rare case of the lenz syndrome.

Sohil T1, Ketki K, Rukmini M S, Nutan K, Poornima M.   

Abstract

We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate.

Entities:  

Keywords:  Lenz syndrome; Microcornea; Microophthalmia

Year:  2013        PMID: 23543842      PMCID: PMC3592308          DOI: 10.7860/JCDR/2013/5009.2764

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  6 in total

1.  A case of Lenz microphthalmia syndrome.

Authors:  F F Ozkinay; C Ozkinay; H Yüksel; A Yenigun; G Sapmaz; O Aksu
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

Review 2.  Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Authors:  S Forrester; M J Kovach; N M Reynolds; R Urban; V Kimonis
Journal:  Am J Med Genet       Date:  2001-01-01

3.  Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Authors:  David Ng; Nalin Thakker; Connie M Corcoran; Dian Donnai; Rahat Perveen; Adele Schneider; Donald W Hadley; Cynthia Tifft; Liqun Zhang; Andrew O M Wilkie; Jasper J van der Smagt; Robert J Gorlin; Shawn M Burgess; Vivian J Bardwell; Graeme C M Black; Leslie G Biesecker
Journal:  Nat Genet       Date:  2004-03-07       Impact factor: 38.330

4.  Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Authors:  David Ng; Donald W Hadley; Cynthia J Tifft; Leslie G Biesecker
Journal:  Am J Med Genet       Date:  2002-07-15

5.  BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Authors:  Emma Hilton; Jennifer Johnston; Sandra Whalen; Nobuhiko Okamoto; Yoshikazu Hatsukawa; Juntaro Nishio; Hiroshi Kohara; Yoshiko Hirano; Seiji Mizuno; Chiharu Torii; Kenjiro Kosaki; Sylvie Manouvrier; Odile Boute; Rahat Perveen; Caroline Law; Anthony Moore; David Fitzpatrick; Johannes Lemke; Florence Fellmann; François-Guillaume Debray; Florence Dastot-Le-Moal; Marion Gerard; Josiane Martin; Pierre Bitoun; Michel Goossens; Alain Verloes; Albert Schinzel; Deborah Bartholdi; Tanya Bardakjian; Beverly Hay; Kim Jenny; Kathreen Johnston; Michael Lyons; John W Belmont; Leslie G Biesecker; Irina Giurgea; Graeme Black
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

6.  Lenz microphthalmic syndrome in an Indian patient.

Authors:  Arvind Gupta; Renuka Srinivasan; Datta G Pandian; K Ramesh Babu
Journal:  Indian J Ophthalmol       Date:  2007 Nov-Dec       Impact factor: 1.848

  6 in total
  1 in total

Review 1.  Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Authors:  Matteo Monticelli; Raffaele De Marco; Diego Garbossa
Journal:  Childs Nerv Syst       Date:  2021-01-25       Impact factor: 1.475

  1 in total

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