Results 41 to 50 of about 5,787 (168)
Journal of Medical Case Reports, 2012 Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate).
Metwalley Kalil Kotb, Fargalley Hekma
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Holoprosencephaly: A Case Report and Review of Prenatal Sonographic Findings [PDF]
International Journal of Fertility and Sterility, 2008 Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar.
Maryam Niknejadi +2 more
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Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
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Iniencephaly and Holoprosencephaly: Report of a Rare Association
Case Reports in Obstetrics and Gynecology, 2014 The aim of this study is to discuss a rare association of iniencephaly and holoprosencephaly and to state the importance of pregnancy termination in early gestational weeks.
Aytekin Tokmak +3 more
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Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock +5 more
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Frontiers in Cell and Developmental Biology, 2021 Many common developmental disorders are thought to arise from a complex set of genetic and environmental risk factors. These factors interact with each other to affect the strength and duration of key developmental signaling pathways, thereby increasing ...
Hsiao-Fan Lo +2 more
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Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures
Journal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
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Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure
Pediatrics and Neonatology, 2009 We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome.
Pen-Hua Su +5 more
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Increasing Number of Unusual Brain Abnormalities Seen in Rural West Virginia
Marshall Journal of Medicine, 2020 The incidence rate of schizencephaly is 1.5 in 100,000 live births and the rate of holoprosencephaly is 1 in 16,000 live births. Both malformations are rare, but our institution has seen a dramatic increase in both malformations in recent years with no ...
Taylor R. Maddox +5 more
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Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 916-924, July 2026.Neurodevelopmental screening in toddlers or preschoolers with sickle cell disease (SCD) predicts future academic deficits. Screening sensitivity for future academic deficits is highest in preschoolers with SCD. Brief neurodevelopmental screening tools can identify high risk children for early intervention. This original article is commented on by Karst
Sarah E. Bills +5 more
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