PMC10068624_01
(a) Photograph showing the hands of the index case at five years of age reveals
bilateral clinodactyly of the little fingers. (b) Radiograph of the index case at five
years of age shows shortened middle phalanges of the little fingers. (c) An allelic
variant of c.2204G>A was confirmed in the HDAC4 gene of the four
symptomatic family members by Sanger sequencing. An arrow in the family tree indicates
the index case.
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She was not small at birth, her birth height and weight were 50.0 cm (+0.29 SD score) and 3,550 g (+1.21 SD score), respectively. She had a language delay with normal motor development, round face, short nose, bilateral clinodactyly of the little fingers (Fig. 1a), and a mild atrial septal defect. Skeletal imaging revealed a shortened middle phalanx in the little fingers (Fig. 1b).