Results 11 to 20 of about 1,915 (178)
Recognizable neonatal clinical features of aplasia cutis congenita [PDF]
, 2020 Background: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could ...
Antona V. +5 more
core +1 more source
Ectrodactyly: A rare anomaly of limbs
Journal of Dr. NTR University of Health Sciences, 2015 Ectrodactyly refers to the congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of central rays.
Nirmala SVSG +4 more
doaj +1 more source
array CGH screening of 134 unrelated families [PDF]
, 2014 Background A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed ...
Doelken, Sandra C. +10 more
core +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 62, Issue 3, Page 353-360, September 2023., 2023 ABSTRACT Objective Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real‐time decision support system (DSS) that suggests, at each step of the examination, the next phenotypic feature to assess, optimizing the diagnostic pathway to the smallest number of ...
J. J. Stirnemann +10 more
wiley +1 more source
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation [PDF]
, 2009 On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split ...
Lurie, I W, Niedrist, D, Schinzel, A
core +1 more source
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
doaj +1 more source
Contemporary Clinical Dentistry, 2012 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature.
P K Shivaprakash +3 more
doaj +1 more source
Differences between NMRI and DBA/2J mice in the development of somites and susceptibility to methylnitrosourea-induced skeleton anomalies [PDF]
, 2017 The development of DBA/2J mouse strain embryos is nearly 12 h - or 6 somite pairs - delayed as compared to the outbred NMRI mouse embryos of the same age on gestation days (GD) 8-12.
Chahoud, Ibrahim +1 more
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Bilateral Diaphyseal Chondrodysplasia and Polymorphic Osteodysplasia of the Tibiofibulas in a Southern Leopard Frog, Lithobates sphenocephalus (Amphibia: Anura: Ranidae) [PDF]
, 2019 Much attention has been focused on limb malformations in anurans following the startling discovery of major limb deformities in Northern Leopard Frogs (Rana pipiens) in Minnesota in 1995. The numerous causes for these malformations can be attributed to a
McCallum, Malcolm L,, Trauth, Stanley E.
core +3 more sources
Gollop-Wolfgang Complex in a New Born with Morton's Toe and Congenital Heart Disease [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Gollop-Wolfgang complex is a rare anomaly comprising of bifid femur, tibial aplasia or hypoplasia and cleft of hands with variations and other systems involvement.
Gurudutt Joshi
doaj