PMC9337944_01
Hand XR of this patient demonstrates multiple skeletal deformities on both the left (ulnar shortening, shortened first metacarpal, hypoplastic phalanges, fusion of the middle and distal phalanges of the 4th and 5th digits) and right (ulnar shortening, shortened first metacarpal, hypoplastic phalanges, bony and soft tissue syndactyly of the 3rd and 4th proximal phalanges) hand and wrist.
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She was noted to have the following skeletal anomalies: macrocephaly (HC 59 cm, >95 percentile), brachysyndactyly (Figure 1), bilateral cleft lip and palate, broad nose, and dextroscoliosis (Figure 2).
KUB and pelvic XR of this patient shows characteristic severe scoliosis often seen in RS.
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She was noted to have the following skeletal anomalies: macrocephaly (HC 59 cm, >95 percentile), brachysyndactyly (Figure 1), bilateral cleft lip and palate, broad nose, and dextroscoliosis (Figure 2).
Results of aCGH for this patient revealed a homozygous deletion affecting ROR2, encompassing exons 6 and 7 confirmed by Sanger sequencing.
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Following her final delivery, our patient qualified for and accepted genetic testing as part of a research protocol studying genetic variations in Robinow syndrome and underwent exome sequencing and array comparative genomic hybridization (aCGH), which revealed a homozygous deletion of a ~9 kb sequence affecting exons 6 and 7 of the ROR2 gene consistent with ARRS (Figures 3 and 4).
Absence of heterozygosity (AOH) plot shows the deletion within a 5.1 Mb region that suggest identity by descent (IBD) and consistent with AR inheritance.
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Following her final delivery, our patient qualified for and accepted genetic testing as part of a research protocol studying genetic variations in Robinow syndrome and underwent exome sequencing and array comparative genomic hybridization (aCGH), which revealed a homozygous deletion of a ~9 kb sequence affecting exons 6 and 7 of the ROR2 gene consistent with ARRS (Figures 3 and 4).