MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities

Clinical Dysmorphology

Volumn 18, Issue 4, 2009, Pages 234-235

  Carman, Kursat Bora ^a   Yakut, Ayten ^a   Sabuncu, Ilham ^a   Yarar, Coskun ^a  

^a OSMANGAZI UNIVERSITY MEDICAL FACULTY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION X; CHROMOSOME TRANSLOCATION X; CHROMOSOME XP; CLINICAL FEATURE; CORNEA OPACITY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FACE; HUMAN; MALE; MICROPHTHALMIA; NECK; NERVOUS SYSTEM MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCLEROCORNEA; SKIN APLASIA; SKIN DEFECT; SYNDROME; SYNDROME DELINEATION; SYNDROME MIDAS; VISUAL IMPAIRMENT; CENTRAL NERVOUS SYSTEM DISEASE; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; CORNEA; FEMALE; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; CORNEA; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROPHTHALMOS; SKIN ABNORMALITIES; SYNDROME;

EID: 70449713914     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832e38a6     Document Type: Article

References (5)

1. Anguiano A, Yang X, Felix JK, Hoo JJ (2003). Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet A 119A:47-49.
2. Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G (2007). Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization. Prenat Diagn 27:373-379.
3. Jones KL (2006). Smith's Recognizable patterns of human malformations. 6th ed. Philadelphia: Elsevier Saunders.
4. Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M (2001). Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet 38:411-417.
5. Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, et al. (2005). Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A 137:190-198.