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Case Reports
. 2021 Nov 11;17(1):181-184.
doi: 10.1016/j.radcr.2021.10.020. eCollection 2022 Jan.

The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss

Atsushi Murata  1
Affiliations
Case Reports

The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss

Atsushi Murata. Radiol Case Rep. .

Erratum in

Abstract

We report the case of the third patient with Tsukahara-Azuno-Kaiji syndrome. It is characterized by brachydactyly A1, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss. The first patient was reported in 1989, and the second in 2010. The present patient had many features in common with the previous 2 patients, with a few minor differences. Although this combination of symptoms is very characteristic, the clinicians should know about this syndrome to diagnose it. The syndrome in this patient appeared sporadically, and chromosome G-banding revealed a normal female karyotype of 46XX. However, further genetic research could not be performed. Steady accumulation of information will enable us to discover the true clinical and genetic nature of the disease and to make the diagnosis more easily.

Keywords: Brachydactyly; Dwarfism; Intellectual disability; Microcephaly; Scoliosis; Tsukahara-Azuno-Kaiji syndrome.

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Figures

Fig 1
Fig. 1
Clinical appearance and radiographs of the patient's hands. The carpal bones were not ossified in early childhood. All middle phalanges were aplastic or dysplastic in brachydactyly type-A1 pattern.
Fig 2
Fig. 2
A full-length portrait and other radiological features of the patient. (a) Photograph of the whole body while standing. (b) Lower legs showed mild bow legs. (c) Right arm radiograph showed bowed radius and ulna. The ulna was shorter, which caused distal radio-ulnar deformity. (d) Both hips remained dysplastic from childhood to adolescence.
Fig 3
Fig. 3
Progress of scoliosis depicted on the radiograph. Scoliosis developed in her adolescence and was surgically treated with posterior spinal fusion.
See this image and copyright information in PMC

References

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