Syndromic dystelephalangy
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Updated: Oct 1, 2026

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo
Published on: July 9, 2019
Krystyna Chrzanowska1, Aleksandra Kowalska, Kazimierz Koziowski
1Department of Human Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Abstract:
We report an 8-year-old boy with a distinctive facial phenotype, deformities of fingers and toes and limitation of knee movement of unknown etiology. He had a round face, a long nose, a thin upper lip, a small mouth and micrognathia. In spite of microcephaly and retarded speech development secondary to hearing loss his mental development was within normal limits. The most distinctive radiographic abnormality was hypoplasia of the distal end of the middle phalanges with radial deviation of the distal phalanges.
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