Congenital Hand Anomalies and Associated Syndromes Springer Verlag Berlin Heidelberg (2014)
495 pág.

Congenital Hand Anomalies and Associated Syndromes Springer Verlag Berlin Heidelberg (2014)


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the pottery of 
Tumaco-La Tolita culture in Colombia-Ecuador. Clin Genet. 2006; 
70:188\u201391.
3. Wraith JE, Rogers JG, Danks DM. The mucopolysaccharidoses. Aust 
Paediat J. 1987;23:329\u201334.
4. Wraith JE, Alani SM. Carpal tunnel syndrome in the mucopolysac-
charidoses and related disorders. Arch Dis Child. 1990;65:962\u20133.
5. Kwon J-Y, Ko K, Sohn YB, et al. High prevalence of carpal tunnel 
syndrome in children with mucopolysaccharidosis type II (Hunter 
syndrome). Am J Med Genet Part A. 2011;155:1329\u201335.
Fig. 5.15 Hurler syndrome a The coarse facial features of a Hurler pa-
tient show a scaphocephaly, thickened lips, broad nose, and depressed 
nasal dorsum. b The hands are small and the digits stubby. Skeletal 
cortices are narrow and the phalanges very broad. The ulna is short and 
both bones of the forearm thin. c The digits are straight as a result of 
early trigger finger releases, which included resection of one slip of the 
flexor digitorum superficialis tendon. A flexion contracture of the fifth 
digit at the proximal interphalangeal joint is common despite aggres-
sive releases. d Corneal clouding is seen. The nasal tip is broad and 
often times bulbous and the alae are anteverted
5 Congenital Joint Contractures 76
Pseudo-Hurler Polydystrophy (Mucolipidosis)
AKA
Pseudo-Hurler polydystrophy
Mucolipidosis III alpha/beta
Mucolipidosis IIIA
Mucolipidosis III
Background Mucolipidoses (ML) are a group of inherited 
metabolic disorders that are characterized by the accumula-
tion of abnormal amounts of carbohydrates and lipids within 
cells. Cell damage occurs, causing symptoms that range from 
mild learning disability to severe mental retardation and skel-
etal deformities. There are four types of ML: Mucolipido-
sis Type I (ML I) or sialidosis, caused by deficiency of the 
digestive enzyme sialidase; Mucolipidosis Type II, caused 
by deficiency of the enzyme N-acetylglucosamine-1-phos-
photransferase, the symptoms of which develop early and 
are severe; Mucolipidosis Type III, caused by deficiency of 
the enzyme N-acetylglucosamine-1-phosphotransferase but 
the condition is milder and develops later than in ML II; and 
Mucolipidosis Type IV, caused by a defect in transport along 
the lysosomal pathway, with intracellular accumulation of 
lysosomal substrates. Type I (sialidosis) is now classified as 
a glycoproteinosis, and Type IV is now labeled as a ganglio-
sidosis. The latter has been studied extensively in the Ashke-
nazi Jewish population.
Mucolipidosis Type III was originally reported by Marote-
aux and Lamy under the designation \u201cpseudo-polydystrophie 
de Hurler\u201d as a condition with many similar clinical pheno-
types to Hurler syndrome but without mucopolysaccharides 
in the urine [1]. 
Etiology It is caused by mutation in a gene encoding the 
alpha and beta subunit precursor gene of GLcNAc-phos-
photransferase. This gene is located on 12q23.2.
Presentation The clinical presentation is similar but not as 
severe as children with Hurler syndrome. Stature is short and 
growth is much slower than normal. There is no mucopoly-
sacchariduria and the serum does contain increased amounts 
of beta hexosaminidases.
Upper extremity Stiffness of shoulder, elbow, wrist, and 
hands [2] is prominent as these children get older. Activi-
ties of daily living are severely affected by limitation of 
motion at both the shoulder and elbow level (. Fig. 5.16). 
Proximal interphalangeal joints are frequently swollen and 
flexion contractures are common as these children grow into 
adulthood. The digits and thumb are straight but smaller than 
normal. Although there is no clinodactyly, flexion contrac-
tures commonly develop at the distal and then the proximal 
interphalangeal joints. Like Hurler children they develop 
indolent compression neuropathies at the wrist and elbow 
level at an early age but do not complain or express their 
sensory symptoms. Though smaller than normal, the hand, 
digits, and thumb look much more normal than Hurler pa-
tients. Wrist pain and limitation of motion is not prominent 
until they become teenagers. Carpal bones are small and 
irregular and the appearance of their primary ossification 
is delayed. 
Lower extremity Flexion contractures of the toes, knees, 
and ankles are in keeping with generalized joint stiffness. 
Long bones are much shorter than normal and tubular bones 
have a wide metaphysis.
Spine Scoliosis may be present.
Craniofacial The facial features can be coarse; the cheeks 
full and the nasal tip broad but not as anteverted as Hurler 
children (. Fig. 5.16).
Systemic Aortic insufficiency, corneal clouding, and mild 
retinopathy are common features. Hernias are not a prominent 
feature of this syndrome. Developmental delay is common. 
A number of our patients do not exhibit any significant neu-
rologic deficit. 
Pseudo-Hurler Polydystrophy (Mucolipidosis) 77
References
1. Maroteaux P, Lamy M. La pseudo-polydystrophie de Hurler. Presse 
Med. 1966;74:2889\u201392.
2. Tylki-Szymanska A, Czartoryska B, Groener JEM, Lugowska A. 
Clinical variability in mucolipidosis III (pseudo-Hurler polydystro-
phy). Am J Med Genet. 2002;108:214\u20138.
Fig. 5.16 Mucolipidosis III alpha/beta a A 20-year-old male with muco-
lipidosis III demonstrates coarse facial features and a wide nose, similar 
but not as severe as that of a Hurler child. The clavicles are small and 
both shoulders hypoplastic. Glenohumeral joint abduction is limited to 
70 degrees. b A relative with the same condition has limited supination 
of the forearm due to an abnormal proximal radioulnar joint. Her radius 
and ulnar have small cortices. Both elbow and wrist joints are stiff. c The 
hands are small and digits shorter than normal. The index PIP joint is 
swollen and stiff and she is beginning to develop DIP joint flexion con-
tractures of the ulnar two digits. d The radiograph shows increased slope 
of the radius, negative ulnar variance, small dysplastic carpal bones, and 
short metacarpals. There is no tapering of the metacarpal shafts
5 Congenital Joint Contractures 78
Schwartz-Jampel Syndrome
AKA
Chondrodystrophic myotonia
Schwartz-Jampel-Aberfeld syndrome
Catel-Hempel syndrome
SJS (abbreviation)
Hallmarks Myotonia, blepharophimosis, and joint contrac-
tures.
Background In 1962 Schwartz and Jampel [1] described a 
case of brother and sister with a disorder that is characterized 
by short stature, myotonic myopathy, epiphyseal cartilage 
dystrophy, joint contractures, blepharophimosis, abnormal 
pinnae, myopia, and pigeon chest. Aberfeld et al [2]. three 
years later reported further observations on the same patients. 
Etiology Autosomal recessive mutations in gene encoding 
perlecan (HSPG2) on chromosome 1p34\u201336.1. 
Presentation The disorder is characterized by progressive 
myotonia in the form of weakness and stiffness with subse-
quent muscle wasting. There are two types of SJS that are 
differentiated by age of disease onset. Schwartz-Jampel syn-
drome Type I is the classical form and manifests during early 
to late infancy or childhood. Schwartz-Jampel syndrome Type 
II is the rare form of the disease, which is recognized at birth. 
Some researches designate SJS Type II as Stuve-Wiedermann 
syndrome. Anesthesia complications in these patients include 
difficult intubation due to microstomia and risk of malignant 
hyperthermia [3]. Mental deficiency is present in 25 % of pa-
tients [4]. 
General musculoskeletal Short stature, skeletal dysplasia 
with muscle weakness and contractures, osteoporosis, and 
joint contractures (. Fig. 5.17).
Upper extremity Wrist and digital joint contractures 
(. Fig. 5.18a\u2013c), short metacarpals especially of the ring 
finger. Radiographic changes include retardation of skeletal 
maturation and slender epiphyses [5].
Lower extremity Enlarged epiphyses at knees;