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Pierpont syndrome: a collaborative study.

Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, McKee S, Mansour S, Connell FC, Chopra M, Kirk EP, Devriendt K, Reardon W, Brunner H, Donnai D - Am. J. Med. Genet. A (2011)

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.

View Article: PubMed Central - PubMed

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.

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Facial profiles of patients. Upper row: previously reported patients A, B, and C. Lower rows: patients 1–7 in this study. Note the short nose, posteriorly rotated ears and short neck in the majority of patients.
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fig02: Facial profiles of patients. Upper row: previously reported patients A, B, and C. Lower rows: patients 1–7 in this study. Note the short nose, posteriorly rotated ears and short neck in the majority of patients.

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.


Pierpont syndrome: a collaborative study.

Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, McKee S, Mansour S, Connell FC, Chopra M, Kirk EP, Devriendt K, Reardon W, Brunner H, Donnai D - Am. J. Med. Genet. A (2011)

Facial profiles of patients. Upper row: previously reported patients A, B, and C. Lower rows: patients 1–7 in this study. Note the short nose, posteriorly rotated ears and short neck in the majority of patients.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4495254&req=5

fig02: Facial profiles of patients. Upper row: previously reported patients A, B, and C. Lower rows: patients 1–7 in this study. Note the short nose, posteriorly rotated ears and short neck in the majority of patients.
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.

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.

View Article: PubMed Central - PubMed

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
Related in: MedlinePlus