Hippocampal hypoplasia in smith-lemli-opitz syndrome

Pediatric and Developmental Pathology

Volumn 16, Issue 4, 2013, Pages 318-320

  Grynspan, David ^a   Michaud, Jean ^a   Nikkel, Sarah M ^a   Creede, Emilie ^a   Staines, William A ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROTRANSMITTER; SEROTONIN RECEPTOR;

AMBIGUOUS GENITALIA; AUTOPSY; BRAIN MALFORMATION; CHOLESTEROL SYNTHESIS; CLEFT PALATE; DENTATE GYRUS; FETUS; GESTATIONAL AGE; HIPPOCAMPUS; HOMOZYGOSITY; HUMAN; HYPOPLASIA; KARYOTYPE 46,XY; KIDNEY AGENESIS; KIDNEY HYPOPLASIA; LETTER; MUTATIONAL ANALYSIS; POLYDACTYLY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; STRATUM RADIATUM; SYNAPTOGENESIS; SYNDACTYLY;

ABORTED FETUS; AUTOPSY; FEMALE; HIPPOCAMPUS; HUMANS; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84883026137     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/12-09-1252-LET.1     Document Type: Letter

References (7)

1. Curry CJR, Carey JC, Holland JS, et al. Smith-Lemli-Opitz Syndrometype II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 1987;26:45-57.
2. Cherstvoy ED, Lazuk GI, Ostrovskaya TI, Shved IA, Krastova GI, Lurie IW, Gerasimovich AI. The Smith-Lemli-Opitz Syndrome: a detailed pathological study as a clue to an etiological heterogeneity. Virchows Arch 1984;404:413-425.
3. Tint GS, Salen G, Batta AK, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr 1995;127:82-87.
4. Hennekam RCM. Congenital brain anomalies in distal cholesterol biosynthesis defects. J Inherit Metab Dis 2005;28:385-392.
5. Arnold SE, Trojanowski JQ. Human fetal hippocampal development: I. Cytoarchitecture, myeloarchitecture, and neuronal morphologic features. J Comp Neurol 1996 Apr 1;367:274-292.
6. Fitoz S, Atasoy C, Deda G, Erden I, Akyar S. Hippocampal malrotation with normal corpus callosum in a child with Opitz syndrome. J Clin Imaging 2003;27:75-76.
7. Chattopadhyay A, Pila YD, Jafurulla M, Chaudhuri A, Singh P, Murty M, Vairamani M. Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin-1A receptors: implications in SLOS. Biochem Biophys Res Commun 2007;363:800-805.