Pycnodysostosis - A Rare Case Report
Abstract
Pycnodysostosis is a rare sclerosing
skeletal dysplasia, first described in 1962
by Maroteaux and Lamy. It is a genetic
disorder, usually diagnosed due to
pathological bone fractures .Short stature
, facial morphological characteristics,
certain radiological features aids in the
diagnosis. The head is usually large, the
nose beaked, the mandibular angle obtuse,
and both maxilla and mandible hypoplastic.
Dental abnormalities and impaction
are observed, as well as alterations
in eruption and frequent dental
crowding. The differential diagnosis includes
osteopetrosis, cleidocranial
dysplasia, Engelmans disease and idiopathic
acro-osteolysis. We report a case
of pycnodysostosis who presented as a
pathological fracture femur and review its
clinical and radiographic features with
the literature.
Keyword :Pycnodysostosis, pathological,
acro-osteolysis
Full Text:
PDFReferences
Maroteaux P, Lamy M. Pycnodysostosis.
Presse Med. 1962 Apr
;70:999-1002.
Kundu ZS et al Subtrochanteric fracture
managed by intramedullary nail
in a patient withPycnodysostosis.
Joint Bone Spine. 2004 Mar;71(2):154-
Edelson JG, Obad S, Geiger R, et
al: Pycnodysostosis: Orthopedic aspects
with a description of 14 new
cases. Clin Orthop Relat
Res 1992; 280:263.
Flman Y, Gomori JM, Fast A: Isthmic
spondylolisthesis in Pycnodysostosis.
J Spinal Disord 1989; 2:268.
Donnarumma M et al. Molecular
analysis of nine CTSK mutations in
twelve patients affected by Pycnodysostosis.
Mutation in brief Online. Hum
Mutat. 2007 May;28(5):524.
Fratzl-Zelman N et al. Decreased
bone turnover and deterioration of
bone structure in two cases of
Pycnodysostosis. J Clin Endocrinol
Metab. 2004 Apr;89(4):1538-47.
Soliman AT et al. Pycnodysostosis:
clinical, radiologic, and endocrine
evaluation and linear growth after
growth hormone therapy. Metabolism.
Aug;50(8):905-11.
Helfrich et alOsteoclast diseases
and dental abnormalities. Arch Oral
Biol. 2005 Feb;50(2):115-22.
Eltmore S (1967) Pycnodysostosis:
a review. J Bone Joint Surg
A:153–162
Meredith S, Simon M, Laros G et
al (1978) Pycnodysostosis. A clinical,
pathological, and ultramicroscopic
study of a case. J Bone
Joint Surg Am 60:1122–1127
Emami-Ahari Z, Zarabi (1969)
Pycnodysostosis. J Bone Joint
Surg Br 51:307–312
Kundu Z, Marya K, Devgan A et
al (2004) Subtrochanteric fracture
managed by intramedullary nail in
a patient with Pycnodysostosis.
Joint Bone Spine 71:154–156
Roth V (1976) Pycnodysostosis
presenting with bilateral subtrachanteric
fractures: case report.
Clin Orthop 117:247–253
Surgical outcomes after treatment
of fractures in femur and
tibia in Pycnodysostosis Arch Orthop
Trauma Surg (2007) 127:161–
PAPAVASILIOU et al: Idiopathic
Norifamilial Acro- Osteolysis Associated
with Other Bone Abnormalities.
Am. J. lloentgeniol., 83 :
-691 ,11)60.
Pycnodysostosis. A report of 3
clinical cases Med Oral Patol Oral
Cir Bucal. 2008 Oct1;13(10):E633-5.
Gelb BD, Edelson JG, Desnick RJ
: Linkage of Pycnodysostosis to
chromosome 1q21 by homozygosity
mappingNat Genet 1995; 10:235.
Karkabi S, Reis ND, Linn S, et
al: Pycnodysostosis: Imaging and
laboratory observations. Calcif Tissue
Int 1993; 53:170.
Fergson JW, Brown RH, Cheong L
Y: Pycnodysostosis associated with
delayed and ectopiceruption of permanent
teeth. Int J Paediatr
Dent 1991; 1:35
GreenspanSclerosing dysplasias:
target-site approach.Skeletal Radiol
; 20:561.
Dusenberry JF Jr, Kane JJ.
Pycnodysostosis. Report of three
new cases. Am J RoentgenolRadium
Ther Nucl Med 1967;99(3):717-723.
Benz G, Schmid-Ruter E. Pycnodysostosis
with heterozygous beta
-thalassemia. PediatrRadiol 1977;5
(3):164-171
Refbacks
- There are currently no refbacks.
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
An Initiative of The Tamil Nadu Dr MGR Medical University