Clinical Reasoning: A neonate with micrognathia and hypotonia

Vawter-Lee, Marissa; Seals, Shannon; Thomas, Cameron; Venkatesan, Charu

doi:10.1212/wnl.0000000000002397

Cited by 2 publications

(4 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Despite the prominent postnatal presentation of congenital hypotonia 2,5,6,17 , its prenatal manifestation is considerably less obvious. Reduced fetal tone was observed in only 8% of cases on the biophysical scan.…”

Section: Discussionmentioning

confidence: 99%

“…In contrast to rates in infancy, the prevalence and prenatal detection rate of congenital hypotonia are rarely reported 7 . This is mainly because hypotonia is not a single medical condition, but rather includes a range of conditions resulting from heterogeneous etiologies that include genetic disorders, infectious causes, exposure to toxins, metabolic errors and hypoxic encephalopathy 1,2,5,6,16 . Anatomically, hypotonia can result from abnormalities affecting one or more of the following loci: upper motor neuron, lower motor neuron, peripheral nerve, neuromuscular junction and muscle 5,17 .…”

Section: Introductionmentioning

confidence: 99%

“…Congenital hypotonia is defined as reduced resistance to passive range of motion that is present at birth 1,2 . The phenotypic spectrum of hypotonia is broad, including a range of severity, gestational age at onset and associated anomalies [2][3][4][5][6] . Marked hypotonia may appear prenatally or, if missed, immediately after birth 2,4,7 , affecting basic functions, such as ambulation, feeding and breathing 8 .…”

Section: Introductionmentioning

confidence: 99%

“…Third, due to the characteristic gradual deterioration, repeated targeted ultrasound scans may be necessary 20 . Fourth, diagnosing hypotonia often requires a multidisciplinary approach, including systematic fetal motility assessment, a targeted scan for associated signs and anomalies, fetal magnetic resonance imaging (MRI), lab investigation and genetic tests [1][2][3][4][5]15,[21][22][23] . Hence, the rate of prenatal diagnosis is low.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Congenital hypotonia: systematic approach for prenatal detection

Weissbach

Hausman-Kedem

Yanay

et al. 2023

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

What are the novel findings of this work?This is the first study to address the prenatal manifestation and diagnosis of congenital hypotonia as a single condition. The overall prenatal detection rate of congenital hypotonic conditions in our cohort was 38.5%. Only cases which underwent a targeted scan were detected and, among the cases which underwent this scan, the prenatal detection rate was 62.5%. A proposed diagnostic strategy that involved performing a targeted scan for a single non-specific ultrasound sign and carrying out a comprehensive genetic evaluation for any additional sign offered a theoretical detection rate of 88.5% in our cohort. What are the clinical implications of this work?Suggested is a semiotic strategy to improve the prenatal detection of congenital hypotonia. This is based on a list of sonographic signs that should be sought, some described herein for the first time.

show abstract

Section: Discussionmentioning

confidence: 99%