Abstract
Introduction: Opsismodysplasia (OPS) is a rare skeletal dysplasia characterized by delayed bone maturation, distinctive skeletal deformities, and severe growth impairment. Mutations in the INPPL1 gene, particularly homozygous variants, are the primary genetic cause of this condition. While bisphosphonate therapy has shown efficacy in OPS cases with hypophosphatemic rickets, its role in cases without this complication remains unclear. Case Presentation: A 2-year-and-2-month-old girl with OPS was treated with intravenous pamidronate (0.5 mg/kg/3 months). Initial evaluations showed severe short stature and low bone mineral density (DEXA SDS: −3.16). After three courses of treatment, the patient achieved independent walking, and her DEXA SDS improved to −2.5 over 1 year. Discussion: Pamidronate is effective in treating OPS even in the absence of hypophosphatemic rickets, showing potential as a therapeutic option for this rare condition.
Journal Section:
Novel Insights from Clinical Practice
References
1.
Zonana
J
, Rimoin
DL
, Lachman
RS
, Cohen
AH
. A unique chondrodysplasia secondary to a defect in chondroosseous transformation
. Birth Defects Orig Artic Ser
. 1977
;13
(3D
):155
–63
.2.
Maroteaux
P
, Stanescu
V
, Stanescu
R
, Le Marec
B
, Moraine
C
, Lejarraga
H
. Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae
. Am J Med Genet
. 1984
;19
(1
):171
–82
. 3.
Below
JE
, Earl
DL
, Shively
KM
, McMillin
MJ
, Smith
JD
, Turner
EH
, et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia
. Am J Hum Genet
. 2013
;92
(1
):137
–43
. 4.
Huber
C
, Faqeih
EA
, Bartholdi
D
, Bole-Feysot
C
, Borochowitz
Z
, Cavalcanti
DP
, et al. Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
. Am J Hum Genet
. 2013
;92
(1
):144
–9
. 5.
Khwaja
A
, Parnell
SE
, Ness
K
, Bompadre
V
, White
KK
. Opsismodysplasia: phosphate wasting osteodystrophy responds to bisphosphonate therapy
. Front Pediatr
. 2015
;3
:48
. 6.
Al Kaissi
A
, Chehida
FB
, Ghachem
MB
, Grill
F
, Klaushofer
K
. Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia
. Skeletal Radiol
. 2009
;38
(3
):293
–6
. 7.
Feist
C
, Holden
P
, Fitzgerald
J
. Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia
. Clin Dysmorphol
. 2016
;25
(4
):152
–5
. 8.
Erneux
C
, Edimo
WE
, Deneubourg
L
, Pirson
I
. SHIP2 multiple functions: a balance between a negative control of PtdIns(3,4,5)P₃ level, a positive control of PtdIns(3,4)P₂ production, and intrinsic docking properties
. J Cell Biochem
. 2011
;112
(9
):2203
–9
. 9.
Backers
K
, Blero
D
, Paternotte
N
, Zhang
J
, Erneux
C
. The termination of PI3K signalling by SHIP1 and SHIP2 inositol 5-phosphatases
. Adv Enzyme Regul
. 2003
;43
:15
–28
. 10.
Abumansour
IS
, Iskandarani
RM
, Edrees
A
, Javed
F
, Taher
F
, Hakeem
GF
. Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: diagnosis and prediction of lethality
. Clin Case Rep
. 2021
;9
(5
):e04079
. 11.
Yoon
JH
, Choi
Y
, Lee
Y
, Yoo
HW
, Choi
JH
. Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents
. Ann Pediatr Endocrinol Metab
. 2021
;26
(2
):105
–11
. © 2025 S. Karger AG, Basel
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
2025
You do not currently have access to this content.
