Absent pituitary gland in two brothers with an oral‐facial‐digital syndrome resembling OFDS II and VI: A new type of OFDS?

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Abstract
The oral‐facial‐digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95‐105, 1993], and with other entities such as Pallister‐Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and Pallister‐Hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects.