Premium
Prenatal activity of a fetus with early‐onset, severe spinal muscular atrophy
Author(s) -
Kirkinen P.,
Ryynänen M.,
Haring P.,
Torkkeli H.,
Pääkkönen L.,
Martikainen A.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970141111
Subject(s) - spinal muscular atrophy , medicine , hypotonia , fetus , atrophy , pediatrics , pregnancy , biology , disease , genetics
A case of early‐onset, severe spinal muscular atrophy is reported. Normal fetal breathing movement patterns and heart rate accelerations were observed in spite of the severe hypotonia evident at birth.