PMC10068620_01
Imaging study and photographs of the patient. (A) Brain magnetic resonance imaging. A
hypothalamic mass at 22 mm in diameter was detected. (B) Photographs of the patient's
hands. We observed polysyndactyly with a small rudimentary finger attached to the
fifth finger of the patient's right hand and a small rudimentary finger on the left
hand. (C) External genitalia on day 60. The picture on the left shows microphallus and
the absence of labioscrotal swelling. The picture on the right shows a single perineal
orifice.
cpe-32-119-g001.jpg
PMC10068620_01_cpe-32-119-g001.jpg
fig_001
The patient showed postaxial polysyndactyly on both hands (Fig. 1B), and atypical genitalia with microphallus, a single perineal orifice, and no labioscrotal swelling (Fig. 1C).
Partial sequence of exon 15 of GLI3. Chromatogram of a patient
harboring a heterozygous pathogenic variant, c.3481C>T, p.Gln1161*, denoted by an
arrow.
cpe-32-119-g002.jpg
PMC10068620_01_cpe-32-119-g002.jpg
fig_002
Gln1161*), has been identified in the GLI3 gene (Fig. 2).