L

 

Lenz mikroftalmi sendromu

Kalıtsal (erkek çocuklarda) - XL (Bkz Mikroftalmi sendromları)

Gelişme geriliği

Mikrosefali

Alın bombesi yüksek

Göz bulguları unilateral ya da bilateral

Mikroftalmi/anoftalmi

Mikrokornea

Strabismus

Nistagmus

Ptozis

Katarakt

Koloboma

Kulak kepçelerinde asimetri ve displazi

Otitis media

Makrodonti (kesici dişler)

Maloklüzyon

Diastemalar

Hipodonti (maksilla lateralleri agenezi)

Süpernümerer dişler

Çukur dmak

Yarık damak

Pilor stenozu

Megakolon

Lomber lordoz

Silindirik toraks

Parmak anomalileri

Ürogenital anomaliler (hypospadias, inmemiş testis, renal agenez/hipoplazi, hidroüreter)

hipotoni

Zeka geriliği

Agresyon

 

  • Forrester S, Kovach MJ, Reynolds NM, et al. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. American Journal of Medical Genetics, 98(1):92-100, 2001

  • Ng D, Hadley DW, Tifft CJ, Biesecker LG. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? American Journal of Medical Genetics, 110:308–314, 2002

  • Okumus, N., Zenciroglu, A., Demirel, N., Bas, A. Y., Ceylaner, S. Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations. Genetic Counselling, 19: 177-182, 2008

  • Hilton E, Johnston J, Whalen S, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17:1325–1335, 2009

  • Esmailpour T, Riazifar H, Liu L, et al. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. Journal of Medical Genetics, 51: 185-196, 2014