Three Sisters With the Smith‐lemli‐opitz Syndrome

Wolf–Hirschhorn syndrome

“…The case of a family in which three affected sisters were born to healthy nonconsanguineous parents was reported in 1974 as Smith-Lemli-Opitz syndrome (Bundey and Smyth, 1974). The karyotype analysis at that time was normal.…”

“…Original images published by Bundey and Smyth (1974). Note the broad-base nose, prominent forehead, epicanthic folds and upsweep to the eyebrows.…”

“…Note the broad-base nose, prominent forehead, epicanthic folds and upsweep to the eyebrows. These images can be compared with those of childhood published by Bundey and Smyth (1974) and Hill et al (1991). At the age of 9 years.…”

A family with three sisters with the 4p‐ syndrome, originally reported as suffering from the Smith‐Lemli‐Opitz syndrome

“…No chromosome abnormality was found in the two aunts and two uncles. (Smith et al, 1964;Bundey & Smyth, 1974) overlap those of the 4p-syndrome and it was really only with the taxonomic approach of Preus et al (1985) that clear distinction could be made and the original, incorrect diagnosis changed. In retrospect, however, cases 1 and 2 had the 'greek warrior helmet' appearance and the long upper lip characteristic of the 4p-phenotype and exemplified in a series of photographs by Miller et al (1970).…”