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Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated hypogonadotropic hypogonadism, central diabetes insipidus, vertebral anomalies, eye anomalies, and cardiac malformations. Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson–Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1. Here, we report three patients with Hartsfield syndrome from two unrelated families. Exome sequencing revealed two siblings harboring a novel de novo heterozygous synonymous variant c.1029G>A, p.Ala343Ala causing a cryptic splice donor site in exon 8 of FGFR1 likely due to gonadal mosaicism in one parent. The third case was a sporadic patient with a novel de novo heterozygous missense variant c.1868A>G, p.(Asp623Gly).

Twentieth Century Americans witnessed the construction of numerous massive dams that controlled the flow of rivers across the country. Many of these dams were built by the U.S. Army Corps of Engineers to improve navigation and to provide inexpensive electricity and flood control. This paper will seek to shed light on Georgia’s current water crisis by analyzing the initial purposes behind the building of Buford Dam in North Georgia, investigating how water supply issues were addressed in the first half of the twentieth century, and exploring how expectations of the Chattahoochee River changed over time due in part to metropolitan Atlanta’s population growth. This paper will show that Atlanta area leaders secured appropriations for Buford Dam primarily to obtain a reliable water supply and additional electricity for their burgeoning community.