Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.
Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. To date, the cause and the pathogenesis of VDPS remain unknown. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.
Isidor
Bertrand
B
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France. bertrand.isidor@chu-nantes.fr
Hamel
Antoine
A
Plasschaert
Frank
F
Claus
Lieve
L
Mercier
Jacques-Marie
JM
Mortier
Geert R
GR
Leroy
Jules G
JG
Verloes
Alain
A
David
Albert
A
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis*; D000168:Acrocephalosyndactylia / Q000150:complications / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D013577:Syndrome; D013580:Synostosis / Q000150:complications*