Dysplasias: spondylo-epi-metaphyseal

(Spondyloepiphyseal dysplasia,  Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome)Heterogeneous group of rare disorders, characterized by the association of vertebral , epiphyseal and metaphyseal anomalies. An international classification recognizes at least 18 different entities (see table). The usual clinical presentation is that of a small (non-harmonious) disproportionate stature. The most frequent forms are the pseudoachondroplasia, the  Strudwick type, Morquiosyndrome (mucopolysaccharidosis type IV)  and  Dyggve-Melchior-Clausen syndrome (see these topics). 


Type

transmission

MIM

gene

locus

features

Strudwick

A dominant

184 250

COL2A1

12q13

myopia, deafness

pseudoachondroplasie

A dominant

177 170

COMP

19p13.1


Missouri

A dominant

602 111

MMP13

11q22.3


Dyggve-Melchior-Clausen

A recessive

223 800

DYM

18q12

 mental retardation

Smith-McCort

A recessive

607 326

DYM

18q12


Menger

or anauxetic

A recessive

607 095

RMRP

9p21-p12

hypodontia, mental retardation, ice-axe-shaped feet

Wolkott-Rallison

A recessive

226 980

EIF2AK3

2p12

diabetes, mental retardation

matriline

A recessive

678 728

MATN3

2p23


Schimke

( immuno-osseous dysplasia)

A recessive

242 900

SMARCAL1

2q34

hypothyroidy, renal failure

pakistani

A recessive

603 005

PAPSS2

10q22


oman

A recessive

608 637

CHST3

10q22.1


aggrecan type

A recessive

612 813

ACAN

15q26.1

macrocephaly,
early arthrosis

Morquio type A

A recessive

253 000

GALNS

16q24.3

see topic

Morquio type B

A recessive

253 010

GLBI

3p21.33


 dyssegmentar dysplasia Silverman-Handmaker

A recessive

224 410

perlecan

1 p36.1

encephalocele, lethal

dyssegmentar dysplasia  Rolland-Desbuquois

A recessive 

224 400

?

?

cleft palate

Handigodu

?

-

?

?

India

with articular laxity

or leptodactylic  Hall

A dominant

603 546

?

?

multiple luxations

Maroteaux

or pseudoMorquio type II

A dominant

184 095

?

?


dysplasia metatropic

?

156 530

250 600

?

?


progressive with mental retardation

A recessive

-

?

?


 SPONASTRIME

A recessive

271 510

?

?


Irapa (SEMDIT)

A recessive

271 650

?

?

Mexico

with articular laxity

Beighton type

A recessive

271 640

B4GALT7

5q35.3

hyperlaxity, 
cleft palate

Sohat or iraki

A recessive ?

602 557

?

?

hepatosplenomegaly

short limbs and abnormal calcification

A recessive

271 665

?

?


micromelic or Kozlowsky

?

601 096

?

?


X-linked

X

300 106

?

?


X-linked with mental retardation

X

300 232

?

?


opsismodysplasia

A recessive

258 480

?

?

rhizomelic micromelia , wide fontanels


Anesthetic implications: 

check the stability of the atlas-axis joint because there is a major risk of spinal cord compression; short stature: careful selection of the diameter of the endotracheal tube and risk of bronchial intubation; facial dysmorphism (hypoplasia of midface and/or micrognathia): risk of difficult intubation: the use of laryngeal mask may be ineffective; abnormal vertebrae, which can make a neuraxial block  technically difficult to achieve; risk of narrow lumbar canal?; possible mental retardation; poor ventilatory function




       EXPERT CONSENSUS for MANAGEMENT:    

Surgical morbi-mortality is higher than in the normal population and the risk of anesthetic complications is very high: these patients must therefore be managed in facilities where care of those complications can be taken.

It is why :

-        a full neurological examination is necessary before general or locoregional anesthesia

-        imaging (MRI or CTscan) of the full spine is recommended

-        a flexion/extension MRI of the cervical spine is necessary if there is any concern about its stability

-        polysomnography, respiratory functional tests (restrictive or obstructive syndrome) and cardiac evaluation (echocardiography) must be considered before an anesthesia

-        morphological and functional anomalies of the upper airway, a decrease in mobility of the cervical spine and bronchial airway anomalies increase the morbidity and mortality of anesthesia

-        a sedative premedication can be administered before anesthesia

-        for intubation, a videolaryngoscope and a intubating fiberscope must be immediately available

-        tracheostomy can be extremely difficult in those patients, particularly in emergency; it is crucial to identify the position of the cricothyroid membrane (XRays, echography) before anesthesia

-        extubation must be preferably done in the operating room; if this may not be the case, an experienced team must be present

-        in patients in whom a fragility of the spinal cord is suspected (concept of spinal cord at risk : significant cyphosis, risk of hypotension, long lasting surgery, difficult surgical positioning), neurological monitoring must be done during the whole procedure, and it is better to avoid epidural anesthesia


Reference:
White KK, Bompadre V, Goldberg MJ, Bober MB, Cho T-J et al.  
Best practices in peri-operative management of patients with skeletal dysplasias.
Am J Med Genet 2017 ; 173A : 2584-95



References : 

-         Benson KT, Dozier NJ, Goto H, Arakawa K. 
Anesthesia for Cesarean section in patient with spondylometaepiphyseal dysplasia. 
Anesthesiology 1985 ; 63 : 548-50.

-        Gupta V, Kholi A, Dewan V. 
Gyggve-Melchior-Clausen syndrome. 
Indian Pediatrics 2010; 47: 973-5.

-         Horn D, Rupprecht E, Kunze J, Spranger J. 
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. 
J Med Genet 2001; 38: 262-5.

-         Fano V, Lejarraga H, Barreiro C. 
Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement. 
Pediatr Radiol 2001; 31: 19-22.

-         Dias C, Cairns R, Patel MS. 
Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. 
Clin Dysmorphol 2009; 18: 25-9.

-         Julier C, Nicolino M. 
Wolcott-Rallison syndrome. 
Orphanet Journal of Rare Diseases 2010 ; 5 : 29

-         Hall C. 
Spondyloepimetaphyseal dysplasias. 
Orphanet Encyclopedia, Feb 2005.

-        www.orpha.net/data/patho/GB/uk-SEMD05.pdf

-         Geneviève D, Cormier-Daire V. 
Spondylo-epi-metaphyseal dysplasia, 
in Encyclopedia of molecular mechanisms of disease, edited by F Lang, 2012.

-         www. springerreference.com/index/chapterbid/109978 

-         Bansal S, Ramesh VJ, Rao GSU, Surve RM. 
Anaesthesia and orphan disease: failed airway management in a case of Smith-McCort dysplasia. 
Eur J Anaesthesiol 2013; 30: 775-6.

-         Szmuk P, Matuszceak M, Carlson RF, Warters RD, Rabb MF, Ezri T. 
Use of a CobraPLA for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications. 
Pediatr Anesth 2005; 15: 602-5.

-        Okutani T, Arima Y, Oda Y. 
Anesthetic management in a child with Rolland-Desbuquois type dyssegmental dysplasia. 
J Clin Anesth 2014, J Clin Anesth 2014; 26 : 648-53


Updated: December 2017