Two Cases of Seckel Syndrome.

Park,  Kyu Chang; Oh,  Phil Soo; Shin,  Jeh Hoon

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Ann Pediatr Endocrinol Metab > Volume 3(2); 1998 > Article

Original Article

Journal of Korean Society of Pediatric Endocrinology 1998;3(2): 228-230.

Two Cases of Seckel Syndrome.

Kyu Chang Park, Phil Soo Oh, Jeh Hoon Shin

Abstract

Seckel syndrome is a rare, autosomal recessive disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. We report hereby the first two Korean cases of typical Seckel syndrome who had characteristic symptoms of intrauterine growth retardation, small head, large eyes, sharp facial features (beaked nose, dysplastic ears and narrow face) with underdeveloped chin, dwarfism, severe mental retardation, and other malformation. We report two cases of Seckel syndrome with a brief review of related literatures.

Keywords: Seckel syndrome;Intrauterine growth retardation;Dwarfism

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