American Journal of Medical Genetics 61:131-133 (1996)

Spondyloepimetaphyseal Dysplasia With Joint

Laxity (SEMDJL):A Brazilian Case
JoPo M. Pina-Neto, Helton L.A. Defino, Marizilda L. Guedes, and Salim M. Jorge
Departments of Genetics (J.M.P.-N.), Surgery (H.L.A.D.),and Pediatrics (M.L.G., S.M. J.), Faculty of Medicine of
Ribeirdo Preto, University of Sdo Paulo, Ribeirdo Preto, Sclo Paulo, Brazil

This is a report on a Brazilian patient with respectively. Congenital dislocation of the hips and
spondyloepimetaphysealdysplasia with joint elbows and “hypotonia” were observed. Neuromotor de-
laxity (SEMDJL;MIM 271640), a rare autoso- velopment was normal, except that a t age 3 the patient
ma1 recessive skeletal dysplasia character- didn’t have a normal gait because of articular laxity.
ized by dwarfism, articular hypermobility, The patient has normal mental development.
progressive intractable spinal malalignment, The parents are nonconsanguineous and clinically
a typical facies and a propensity to joint normal. The propositus is the second child of a sibship
dislocation and subluxation. The condition of two. The first child is a normal 7-year-old boy.
has been described only in 20 children of Family history is unremarkable. The father has four
Afrikaans-speakingparents in South Africa. healthy children of a first marriage. The mother has
This is the first report of a non-Afrikaans German ancestry. The family lives in Brazil.
patient with this genetic entity. At examination a t 3 years and 3 months, the patient
0 1996 Wiley-Liss, Inc. had short stature (79 cm, less than 3rd centile) weight
8,730 g (less than 3rd centile), OFC 50.5 cm (50-98th
KEY WORDS: bone dysplasia, dwarfism, centile), chest circumference 51.5 cm ( 2 5 4 0 t h centile),
joint laxity, autosomal reces- relative macrocephaly, craniofacial disproportion, a
sive inheritance typical facies of SEMDJL (oval face, blue sclerae, inner
epicanthal folds, prominent eyes, low nasal bridge, and
a long upper lip), high-arched palate, irregular teeth,
INTRODUCTION short neck, thoracic asymmetry with pectus carinatum,
severe kyphoscoliosis with lumbar kyphosis, severe
Beighton and Kozlowski [1980] described a unique articular hypermobility with elbow deformity (bilateral
form of spondyloepimetaphyseal dysplasia with joint dislocation of the radial heads), unstable talipes
laxity (SEMDJL) in seven South African children. Un- equinovarus, terminal phalanges of the hands which
til now, only 20 patients were described with this new are spatulate, and skin with a soft texture and some hy-
genetic entity, all in the Afrikaans-speaking population perextensibility (Fig. 1).The neurological examination
of South Africa [Beighton, 19941. was normal.
This is a report of a Brazilian patient with this rare The radiological examination a t 3 months (Figs. 2
condition and a discussion of the wider distribution of and 3) showed gross spinal malalignment with dys-
this rare gene. plastic vertebral bodies (flattened and irregular); the
CLINICAL REPORT radius was shortened and bowed with subluxation of
the elbow joint, there were generalized metaphyseal
The patient is a 3-year-old Caucasian girl, who is the widening and irregular epiphyses, large iliac wings
second child of a healthy 23-year-old mother and 39- with irregular acetabulae, short and broad femoral
year-old father. Ultrasonographic examination a t 38 necks, and shortening of tubular bones of the hands. A
weeks of pregnancy showed shortened long bones and cytogenetic examination was normal (46,XX).
oligohydramnios. The baby was delivered by caesarian
section with a birth weight of 3,100 g, length 45 cm, DISCUSSION
OFC 38.5 cm, chest circumference (CC) 33.5 cm; the The clinical and radiological picture of this Brazilian
Apgar scores were 8 and 9 at one and five minutes, patient is very compatible with a diagnosis of SEMDJL
(Table I). Torrington and Beighton [1991], in a genea-
~

Received for publication December 5 , 1994; revision received

logical study of the 13 nuclear families with 18 affected
May 4,1995. members with SEMDJL, showed the relationship of all
Address reprint requests to Jofio M. Pina-Neto, M.D., Ph.D., the affected persons t o two common ancestors (a founder
Department of Genetics, Faculty of Medicine, 14049-900, Ribeirfio effect in South Africa). Beighton [1994] said that “apart
Preto, SP, Brazil. from the persons with SEMDJL in South Africa, the au-
0 1996 Wiley-Liss, Inc.
132 Pina-Net0 et al.

Fig. 1. The patient at 3 years and 3 months with relative macro-

cephaly, a typical facies of SEMDJL (oval face, prominent eyes, low
nasal bridge, a long upper lip), short neck, pectus carinatum, severe
kyphoscoliosis with lumbar kyphosis, elbow deformity, genu varum,
some terminal phalanges which are spatulate, hyperextensibility of
the joints, and unstable feet.

Fig. 3. Radiological manifestations a t different ages: notable are

gross spinal malalignment, large iliac wings with irregular acetabulae,
short and broad femoral necks, shortening of tubular bones of the
hands, and generalised metaphyseal widening and irregular epiphyses.

TABLE I. Clinical Manifestations of SEMDJL

~
Present case
Consistent features present in all patients"
Dwarfism
Articular hypermobility
Spinal malalignment
Thoracic asymmetry
Elbow deformity (bilateral dislocation
of the radial heads)
Foot deformity (bilateral talipes
equinovarus)
Characteristic but variable features
Facies: Oval face
Long upper lip
Protuberant eyes
Scleral blueing
Hands: Spatulate terminal phalanges
especially of the thumbs
Gross joint laxity permitting
abnormal positioning
Skin: Soft, doughy texture with some
hyperelasticity
Inconsistent features
Cleft palate (31%)
High palate (12%)
Cardiac defect (28%)
Genu valgum (80%)
Fig. 2. Radiological manifestations at different ages: the vertebral Congenital dislocation of the hips (27%)
bodies are flattened and irregular; the radius is shortened and bowed
with subluxation of the elbow joint. "Beighton et al. [19841.
 Spondyloepimetaphyseal Dysplasia 133

thor has been informed of affected persons in France, REFERENCES

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genetic entity not in Africa but born to Brazilian non- Beighton P, Kozlowski K (1980): Spondyloepimetaphyseal dysplasia
consanguineous parents. This reinforces Beighton’s with joint laxity and severe, progressive kyphoscoliosis. Skeletal
opinion that this gene is widespread in the world. Radio1 5205-212.
Beighton P, Gericke G, Kozlowski K, Grobler L (1984): The manifes-
ACKNOWLEDGMENT tations and natural history of spondyloepimetaphyseal dysplasia
with joint laxity. Clin Genet 26308-317.
We are indebted to the Radiological section of the Torrington M, Beighton P (1991): The ancestry of spondyloepimeta-
Hospital das Clinicas, Faculty of Medicine of Ribeiriio physeal dysplasia with joint laxity (SEMDJL) in South Africa. Clin
Preto for examination of the patient. Genet 39:ZlO-213.