Pierpont syndrome: a collaborative study.
Bottom Line: Details of a series of patients with features of this condition were therefore obtained retrospectively to better characterize its key features.Further individuals with equally striking hand and foot findings were identified whose facies were less characteristic, and hence we considered them unlikely to be affected with the same condition.Whilst it is as yet unclear whether it is a single entity, there appears to be a group of patients in whom Pierpont syndrome may be a recognizable condition, with typical facies, particularly when smiling, and characteristic hand and foot findings.
Affiliation: Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.Show MeSH
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Mentions: The initial patient in the original report [Pierpont et al., 1998; Figs. 1A and 2A] was a boy whose development was first noted to be delayed at 6 months of age. Subsequently his milestones were severely delayed, walking first at the age of 4 years. He lost his few words of expressive speech. His growth remained below the 5th centile for height, weight, and head circumference. He suffered from myoclonic and grand mal seizures from 5 years of age, and required repeated surgery for hip subluxation and inguinal hernias. By 12 years of age, the fat pads on his feet had disappeared, and he had a progressive scoliosis.
Affiliation: Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.