Pierpont syndrome: a collaborative study

Abstract

Pierpont syndrome is a multiple congenital anomaly syndrome with learning disability first described in 1998. There are only three patients with Pierpont syndrome who have previously been published in the literature. Details of a series of patients with features of this condition were therefore obtained retrospectively to better characterize its key features. These patients were noted to have distinctive shared facial characteristics, in addition to plantar fat pads and other limb abnormalities. 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. Despite several patients with possible Pierpont syndrome having had high-resolution array CGH or SNP array, the etiology of this phenotype remains unknown. 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.

FIG. 1

Facial appearance of patients. Upper row: previously reported patients A, B, and C. Lower rows: patients 1–7 in this study. Note the monozygotic twins in the center (patients 3 and 4). Shared facial characteristics demonstrated across the group include narrow palpebral fissures, a thin vermilion border to the upper lip, a full lower lip and full cheeks [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com].

FIG. 2

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.

FIG. 3

Feet of patients. a,b: patient 1; c–f: patient 2. g–j: patient 3; k,l: patient 7. Note marked plantar fat pads anteromedial to the heels and prominent toe pads.

FIG. 4

Hands of patients. a,b: patient 1; c: patient 2; d,e: patient 3; f,g: patient 5; h: patient 7. Note fleshy appearance to the hands, including deep palmar creases.

FIG. 5

Faces of patients when smiling. Accentuation of the facial similarities between patients in this situation is shown here in previously reported patients A. Faces of patients (left to right): B from the original report, C from the confirmatory report, 1 and 4 from this study. Note “crescent moon” appearance of the palpebral fissures due to fullness of the cheeks.