Results 61 to 70 of about 8,041 (202)

Lissencephaly with CMV Infection: A Case Study

, 2021
A nine months old baby boy was admitted in a pediatric ward at SGG Hospital, Vadodara diagnosed with lissencephaly associated with Cytomegalo virus (CMV) infection. Lissencephaly includes severe brain deformations. Cytomegaly infection is popularly known
Tousif Idrisi, Amit Sarkar, Shring Sandilya, Neelam Injeti   +3 more
core   +1 more source

Septo-optic dysplasia with lissencephaly [PDF]

, 2012
Septo –optic dysplasia with lissencephaly rarely occurs simultaneously. We describe such a patient presenting with absent visual fixation, mild developmental delay, ophthalmological examination revealed small pale optic disc with typical double rim and B/
Kumar Amritanshu
core  

Recurrent KIF2A mutations are responsible for classic lissencephaly

, 2017
International audienceKinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development.
Morjani, A. el, Coubes, Christine, Drouin-Garaud, Valérie, Moutton, S., Maillard, C., Bole-Feysot, Christine, Bijlsma, E.K., Guerrot, Anne-Marie, Cavallin, M., Peeters, E.A.J., Bijlsma, Emilia, Fourrage, C., Moutton, Sébastien, Steffann, Julie, Guerrot, A.M., Peeters, Els, Geneviève, David, Genevieve, D., Fourrage, Cécile, Pedespan, J.M., Bahi-Buisson, N., Maillard, Camille, Coubes, C., Steffann, J., Bole-Feysot, C., El Morjani, Adrienne, Bahi-Buisson, Nadia, Drouin-Garaud, V., Cavallin, Mara, Pedespan, Jean Michel   +29 more
core   +1 more source

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

American Journal of Perinatology Reports, 2014
Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema.
Linda Mahgoub, Khalid Aziz, Dawn Davies, Norma Leonard   +3 more
doaj   +1 more source

X-Linked Lissencephaly with Absent Corpus Callosum

, 2002
Three new cases of the congenital syndrome consisting of X-linked lissencephaly, absent corpus callosum, and genital anomalies (XLAG) are reported from the University Hospital, Angers ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Clinical and diagnostic features in lissencephaly type 1 [PDF]

, 1991
The incentive to start this study in 1986 were two patients with lissencephaly, observed during my training as a neurologist. Such an exceptional occasion prompted an attempt to collect a large group of patients with lissencephaly type I, a rare ...
Rijk-Van Andel, J.F. (Johanneke) de
core   +1 more source

Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage

Neurobiology of Disease
Proper topographically organized neural connections between the thalamus and the cerebral cortex are mandatory for thalamus function. Thalamocortical (TC) fiber growth begins during the embryonic period and completes by the third trimester of gestation ...
Sheng-Min Huang, Kuan-Hung Cho, Koping Chang, Pei-Hsin Huang, Li-Wei Kuo   +4 more
doaj   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, Volume 11, Issue 5, Page 1635-1650, October 2026.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome

Journal of Family Medicine and Primary Care, 2020
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature.
Anjali Verma, Rashika Jain, Neha Babbar, Sudeep Kumar   +3 more
doaj   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, Volume 40, Issue 19, October 2026.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source