Familial bird headed dwarfism (Seckel syndrome)

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Abstract

Low birth weight dwarfism with mental retardation, large eyes, a beaklike nose, narrow face, receding mandible, and dental anomalies are the specific features of 'bird headed dwarf of Seckel'. The following case report presents details of a Seckel dwarf with familial occurrence of the trait and, thus supports an autosomal recessive mode of inheritance. In addition, the possible significance of dental alterations is noted.

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Sauk, J. J., Litt, R., Espiritu, C. E., & Delaney, J. R. (1973). Familial bird headed dwarfism (Seckel syndrome). Journal of Medical Genetics, 10(2), 196–198. https://doi.org/10.1136/jmg.10.2.196

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