PMC6260184_01
Morphological abnormalities.. Notes: (A) Body and upper limbs showed shortening of the superior limbs, bilateral phocomelia. (B) Right thumb agenesis. (C) Left thumb agenesis and syndactyly in the second and third fingers of the left hand.
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She was born with multiple CDSL and bilateral phocomelia, shortening of the left arm mainly, syndactyly of the second and third fingers of the left hand, and agenesis of both thumbs (Figure 1).
PMC6260184_02
X-ray images of the upper limbs.. Notes: (A) Right upper limbs with radioulnar subluxation in the elbow joint. (B) Right hand with an absence of the first finger, including the metacarpal bones and phalanges. (C) Left upper limbs with an absence of the ulna. (D) Left hand with an absence of the first finger, including the metacarpal bones and phalanges.
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Radiological studies of the upper limbs revealed absence of bilateral metacarpal bones and phalanges of the first finger, bilateral radioulnar hypoplasia, absence of the ulna in the left arm (Figure 2), hip dysplasia, and femoral-tibial varum angle (genu varum).
TBX5 gene sequence.. Notes: At the top of the figure it can be observed that intron 4 and exon 5 positions correspond to the nucleotides sequence. The TBX5 gene sequence showed a normal result (A, B) and heterozygous substitution G>C in the 243-1 position (NM_181486.2:c.243-1G>C) (C), related to HOS. (A) Thirty-seven year-old male (father), (B) 33-year-old female (mother), (C) 2-year-old infant (proband).. Abbreviation: HOS, Holt-Oram syndrome.
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f3-tacg-11-157
Fisher Scientific, Waltham, MA, USA). A carrier study in the parents was negative for this mutation (Figure 3). For that reason, this mutation was considered to be a novel de novo mutation, which has not been previously reported.