Results 31 to 40 of about 11,012 (235)

Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports

Global Pediatric Health, 2023
Holoprosencephaly (HPE) is a rare birth defect that occurs during the first few weeks of pregnancy. It results from a disturbance in the usual signaling pathways required for separation of the embryonic prosencephalon into 2 separate cerebral hemispheres.
Benmoussa Meryem, Naggar Amine, Oukili Houssein, El Haddad Siham, Allali Nazik, Chat Latifa   +5 more
doaj   +1 more source

Recognition of Patau Syndrome (Trisomy 13) Based on Clinical Features in a Resource‐Limited Setting: A Case Report [PDF]

Clin Case Rep
ABSTRACT Patau syndrome (trisomy 13) is a life‐limiting chromosomal disorder with multiple congenital anomalies. We report a term male neonate with bilateral cleft lip and palate, aplasia cutis congenita, postaxial polydactyly, hypotonia, congenital heart disease, and presumed neonatal sepsis.
Amiri S, Anwari N, Hossaini D, Qiam A, Haidary M.   +4 more
europepmc   +2 more sources

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

Environmental Health, 2020
Background Pesticide exposure during susceptible windows and at certain doses are linked to numerous birth defects. Early experimental evidence suggests an association between active ingredients in pesticides and holoprosencephaly (HPE), the most common ...
Y. Addissie, P. Kruszka, Angela Troia, Z. Wong, Joshua L. Everson, B. Kozel, R. Lipinski, K. Malecki, M. Muenke   +8 more
semanticscholar   +1 more source

Holoprosencephaly in Patau Syndrome [PDF]

Revista Paulista de Pediatria, 2023
Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.
Amanda de Souza Schlosser, Giovani José Coury Costa, Henrique Salmazo da Silva, Juan Luca Menezes de Mello, Lucy de Oliveira Gomes, Marina Michalski Oliveira Onoyama, Tatiana Martins Coury Costa   +6 more
doaj   +1 more source

PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly

Science Advances, 2020
The transcriptional regulator PRDM15 orchestrates NOTCH and WNT/PCP signaling to ensure normal mammalian development. Holoprosencephaly (HPE) is a congenital forebrain defect often associated with embryonic lethality and lifelong disabilities. Currently,
Slim Mzoughi, Federico Di Tullio, D. Low, Corina-Mihaela Motofeanu, S. Ong, Heike Wollmann, Cheng-Mun Wun, P. Kruszka, M. Muenke, F. Hildebrandt, N. R. Dunn, D. Messerschmidt, E. Guccione   +12 more
semanticscholar   +1 more source

Profile of skills of development in children with Holoprosencephaly and Holoprosencephaly-like [PDF]

, 2012
OBJETIVO: investigar e comparar o desempenho nas habilidades relacionadas ao desenvolvimento motor, cognitivo, linguístico, de socialização e autocuidados de indivíduos com holoprosencefalia e com holoprosencefalia-like. MÉTODO: participaram deste estudo
Zorzetto, Neivo Luiz, Cassab, Tatiana Vialogo, Lamonica, Dionisia Aparecida Cusin, Giacheti, Célia Maria   +3 more
core   +3 more sources

Prenatal Diagnosis of Partial Trisomy 3p (3p21→pter) and Partial Monosomy 11q (11q23→qter) Associated with Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System

Journal of the Formosan Medical Association, 2008
Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p.
Chih-Ping Chen, Tzu-Hao Wang, Chyi-Chyang Lin, Fuu-Jen Tsai, Lie-Jiau Hsieh, Wayseen Wang   +5 more
doaj   +1 more source

Middle Interhemispheric Variant of Holoprosencephaly – Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus [PDF]

Journal of Clinical and Diagnostic Research, 2015
Middle Interhemispheric variant (MIH) is a rare subtype of holoprosencephaly (HPE), also known as syntelencephaly. We present a case of MIH, which was diagnosed as an interhemispheric cyst on antenatal sonography at 19 weeks, but later diagnosed as MIH ...
Akhila Vasudeva, Shalini S Nayak, Rajagopal Kadavigere, Katta M Girisha, Jyothi Shetty   +4 more
doaj   +1 more source

Management of alobar holoprosencephaly associated with fronto-nasal encephalocoele and type I (closed-lips) schizencephaly at the university of calabar teaching Hospital: A case report and literature review

Interdisciplinary Neurosurgery, 2022
Holoprosencephaly, though rare remains the most common forebrain abnormality in humans. This is a report of a patient with multiple craniofacial congenital abnormalities comprising of alobar holoprosencephaly, schicencephaly, encephalocoele and cleft ...
O.H. Obanife, Abiola Grace Adekanye, Rijami Godwin Ekpo, Nnamdi Sunday Okonkwo, Efuma John Gbaji, Kingsley Akaba, John Ashindoitiang, Joseph Asuquo, Olabisi Ogunleye   +8 more
doaj   +1 more source

Pathogenesis of holoprosencephaly [PDF]

Journal of Clinical Investigation, 2009
Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology
Xin, Geng, Guillermo, Oliver
openaire   +2 more sources