ArticleClinical case reports2024
A couple of the first cousins born with hypotonia and maternal polyhydramnios.
Article in Clinical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed, 1 citations in OpenAlex.
- A couple of the first cousins born with hypotonia and maternal polyhydramnios.Clinical case reports · 2024Article
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3 authors at 1 institution in 1 country.
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Abstract
Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia. Abstract: Congenital myotonic dystrophy (CDM) is a predominantly maternally inherited disease and results from increased numbers of cytosine, thymine, and guanine (CTG) repeats in the unstable DNA regions and presents as hypotonia in the neonatal period and myotonia in adulthood. This report aims to present two cases of CDM. A first-cousin couple was born and hospitalized due to hypotonia at birth and a maternal history of polyhydramnios during this pregnancy. The first-born baby girl was admitted to the NICU with tachypnea and hypotonia, clubfoot, and frog-like posture. The pregnancy was complicated by polyhydramnios. Interestingly, her first cousin was born the next day with a similar picture and history. Myotonia was detected in their mothers. The concurrent presence of hypotonia and polyhydramnios as well as maternal myotonia in a first cousin should be considered CDM until proven otherwise and this was confirmed by the EMG- NCV test.
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