A case of Lenz microphthalmia syndrome

Journal of Medical Genetics

Volumn 34, Issue 7, 1997, Pages 604-606

  Özkinay, F Ferda ^a   Özkinay, Cihangir ^a   Yüksel, Kasan ^a   Yenigun, Ayse ^a   Sapmaz, Güll ^a   Aksu, Oguz ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

Corpus callosum dysgenesis; Lenz microphthalmia syndrome; Microphthalmia

Indexed keywords

ADOLESCENT; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN DISEASE; CASE REPORT; CORNEA; CORPUS CALLOSUM; CRYPTORCHISM; EYE MALFORMATION; HEAD CIRCUMFERENCE; HUMAN; HYPOSPADIAS; LATERAL BRAIN VENTRICLE; MALE; MICROCEPHALY; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PUPIL; SKELETON MALFORMATION; TOOTH MALFORMATION; VISION;

EID: 0030745836     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.7.604     Document Type: Article

References (16)

1. Lenz W. Recessivegchlechsgebundane Microphthalmia mit multiplen Misbuldingen. Z Kinderheilkd 1955;77:384.
2. Trabulsi EI, Lenz W, Gonzales-Ramos M, Siegel J, Macrae WG, Maumene IH. The Lenz microphthalmia syndrome. Am J Ophthalmol 1988;105:40-5.
3. Glanz A, Forse A, Polemeno RC, Cole DEC. Lenz microphthalmia. A malformation syndrome with variable expression of multiple congenital anomalies. Can J Ophthalmol 1983;18:41-4.
4. Kenneth L. Smith's recognizable patterns of human malformation. 4th ed. Philadelphia: Saunders, 1988:358-9.
5. Pena SDJ, Shokeir MHK. Autosomal recessive cerebrooculo-skeletal (COFS) syndrome. Clin Genet 1974;5:285.
6. Winter RM, Baraitser M. Microphthalmia, multiple congenital anomalies. A diagnostic conundrum. London: Chapman and Hall, 1992:1092-3.
7. McKusick VA, Microphthalmia and anophthalmos with associated anomalies (MAA: Lenz dysplasia). In: Mendelian inheritance in man. Catalogs of atttosomal dominant, autosomal recessive and X-linked phenotypes. 10th ed. Baltimore: The John Hopkins University Press, 1992:1911.
8. Jinkins JR, Whittemore AR, Bradley WG. MRI imaging of callosal and corticocallosal dysgenesis. AJNR 1989;10:339-44.
9. Jeret JS, Serur D, Wisniewski KE, Lubin RA. Clinicopathalogical findings associated with agenesis of the corpus callosum. Brain Dev 1987;9:255-64. (Erratum, Brain Dev 1989;9:567.)
10. Heyer E, Tremblay M. Variability of genetic contribution of Quebec population founders associated with some deleterious genes. Am J Hum Genet 1995;56:970-8.
11. Nijokiktijen C, de Sonneville L, Vael J. Callosal size in children with learning disabilities. Behav Brain Res 1994;64:213-14.
12. Hopkins IJ, Humphrey I, Keith GG, Susman M, Webb GC, Turner EK. The Aicardi syndrome in a 47XXY male. Aust Paediatr J 1979;15:278-80.
13. Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. ARC Dermatol 1962;86:708.
14. Friedman PA, Rao KW, Teplin SW, Aylsworth AS. Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. Am J Hum Genet 1988;43: A50.
15. Nielsen KB, Anvert M, Flodmark O, Furuskog F, Bohman-Valis K. Aicardi syndrome: early neurological manifestations and results ofDNA studies in one patient. Am J Med Genet 1991;38:65-8.
16. Graham CA, McCleary BG, Malcolm S, et al. Linkage analysis in a family with X linked anophthalmos. J Med Genet 1988;25:643.