Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant

06 August 2026 : Case report Saudi Arabia

Rare disease

Khalid A. Alanazi^{ABEF 1}, Saad Mutlaq Alosaimi^{ABEF 2}, Asma Alzuabi^{AEF 2*}

DOI: 10.12659/AJCR.952957

Am J Case Rep 2026; 27:e952957

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Table 1 Summary of abnormal anthropometric features and their measurements.

Measurement	Value
Ear height, width, and protrusion	6.4 (−1.33 SD), 3.5 (+0.75 SD), and 1.6 cm (−0.67 SD)
IPD	6.5 cm
Palpebral fissure	11 mm (+1.5 SD)
Mouth-to-nose distance	2.6 cm (−1.5 SD)
Nose height and width	5.5 cm (0.0 SD), and 5.4 cm (+3.8 SD)
Upper lip thickness	0.5 cm (−2.5 SD)
Mouth-to-chin distance	3.7 cm (−2.17 SD)
Eyebrow height, length, and thickness	1.1 cm (−2.33 SD), 3.6 cm (−2.33 SD), and 0.6 cm (−2.0 SD)
Mouth width	6 cm (+2 SD)
Note: IPD, interpupillary distance; SD, standard deviation.

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