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Egyptian Journal of Medical Human Genetics

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Peters’ plus syndrome in an Egyptian patient with some unusual features

R Shawky, HS Abd-Elkhalek

Abstract


We report on a 1 5/12 years old male patient with clinical manifestations of Peters’-Plus syndrome. The patient had Peters’ anomaly (central adherent leucoma, bilateral congenital cataract), growth deficiency, disproportionate short stature, mild mental retardation. He had also short hands with nearly complete cutanous syndactly between the third and the forth fingers and broad thumbs, bilateral rocker bottom heals, bilateral partial cutanous syndactly between the 2nd and the 3rd toes with broad big toes and genitourinary malformations with generalized hypotonia. Some of the features reported in Kabuki make-up syndrome were also present in our patient including mainly hepatomegaly and craniosynostosis. However in our patient some features were present not reported before in both syndromes including thick tounge, thick everted lower lip, anteverted naris, broad thumb and big toe, kyphoscoliosis in lower back, bilateral rocker bottom heals and splenomegaly.

Key Words: Peters’ anomaly, craniosynostosis, hypospadius.




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