Indian Pediatr 2010;47: 973-975
V Gupta, A Kohli and V Dewan
From Department of Pediatrics and Neonatology, Dr Ram
Manohar Lohia Hospital, New Delhi, India.
Correspondence to: Dr Vijay Gupta, C/o Chaudhary Traders,
Dal Bazaar, Lashkar,Gwalior 474 009, MP, India.
Received: April 2, 2009;
Initial review: May 12, 2009;
Accepted: August 4, 2009.
Dyggve–Melchior–Clausen syndrome is a rare autosomal-recessive disorder,
characterized by progressive spondylo-epi-metaphyseal dysplasia
associated with mental retardation. The clinical and radiological
findings resembles Morquio disease at the onset of condition, which may
hinder its diagnosis. Two siblings with chatacteristic clinical
(progressive postnatal dwarfism and mental retardation) and radiological
features (irregular lace-like appearance of the iliac crests) are
Key words: Dyggve–Melchior–Clausen syndrome,
syndrome (DMCS) is a rare autosomal recessive disorder produced by
mutations in the Dymeclin gene (mapped in the 18q12-21.1 chromosomal
region). The patients have short trunk dwarfism, striking barrel-shape
chest, sternal protrusion, kyphoscoliosis, microcephaly and various distal
deformities, including genu valgum or varum, and minimal decrease in joint
mobility with variable degrees of mental retar-dation(1,2). The most
notable radiographic findings are a lacy iliac crest apophysis, hip
dysplasia, platyspondyly, double vertebral hump, and odontoid hypoplasia
with atlanto-axial instability. The diagnosis may be confirmed
histologically, but no biochemical defect has been defined as yet(2-8).
Only 58 cases have been reported in the English literature worldwide(4),
mainly from Lebanon, Greenland and Morocco. For the first time, two cases
are being reported from India.
A 12-year-old boy was admitted with complaints of not
gaining height, with delay in developmental milestone. The patient
underwent detailed clinical examination followed by radiographic
examination, which revealed skeletal dysplasia. He was the fourth child in
birth order with parents having consanguinity. Birth history was normal
with average size at birth. Family history revealed except the younger
sibling having similar complaints. Height was 98 cm (<-3SD), weight was
12.3 kg (<-3SD percentile), pubic bone-heel distance (lower segment) was
53 cm, an upper segment length was 45 cm and an upper to lower segment
ratio was 0.85 (normal ~ 0.9). Head circumference was 44.5 cms (<-3SD) (Fig.1).
Mental redardation was present (IQ = 41) with no other neurological signs.
Waddling gait was present. His skeletal age was 6 years. An increased
anteroposterior chest diameter and kyphoscoliosis was present, and
proximal portions of the upper and lower limbs were short. Urine amino
acids were normal and there was no urinary excretion of
mucopolysaccharides. Radiological findings are detailed in Fig.2.
Fig. 1. Siblings with
The younger 4-year-old sib of Case I presented with
similar complaints of not gaining height with delay in developmental
milestones. He was 8th in birth
order with normal birth history. His height was 84 cm (<-3SD), weight 9.7
kg (<-3SD), pubic bone-heel distance (lower segment) was 41 cm, an upper
segment was 43 cm and an upper to lower segment ratio was 0.85 (normal ~
1.2). Head circumference was 43 cms (<-3SD). Mental redardation was
present (DQ/ IQ = 30) with no other neurological signs. Waddling gait was
present. His skeletal age was 4 years. An increased anteroposterior chest
diameter and kyphoscoliosis was present and proximal portions of the upper
and lower limbs were short. Urine amino acids were normal and there was no
urinary excretion of mucopolysaccharides.
Radiological findings in both cases were similar (Fig.2.)
Fig. 2 Iliac bones are hypoplastic
with characteristic irregular lace-like appearance of the iliac
crests, Irregular ossification was present on the acetabuli and the
acetabular roofs are flat. Femoral necks are short and both
epiphyses and metaphyses are irregular causing lateral displacement
of the femoral heads. Characteristic doublehumped appearance of
vertebral bodies. Epiphyseal and metaphyseal dysplasia is present at
both ends of humerus with destruction of shoulder joint.
Dyggve–Melchior–Clausen syndrome (DMC, MIM 223800)
needs to be differentiated from its rare variant Smith-McCort dysplasia,
mucoploysacchri-dosis, spondyloeiphyseal dysplasia tarda and
spon-dylometaphyseal dysplasia (SMD).
Both cases presented here had typical clinical and
radiological features of DMC. Clinical and radiological presentation of
DMC mimics storage disorder, in particular Morquio’s disease (MPS IV, MIM
253010), but the presence of mental retardation and absence of corneal
clouding, hyperextensibility of joints, deafness, valvular disease or
mucopolysacchariduria in DMC serves to differentiate the two
Smith-McCort dysplasia is a close variant of DMC with
all features resembling the later including the radiological findings
except that there is no evidence of mental retardation in the former.
Spondyloepiphyseal dysplasia tarda and spondy-lometaphyseal dysplasias can
be differentiated from DMC based on their differentiating clinical and
Dr Akhila, Consultant, Radiology, Dr Ram Manohar Lohia
Hospital for delineating the typical radiological findings and Dr M N Lal
Mathur for pshychomotor evaluation of these children.
Contributors: VG and AK were involved in active
case management and review of literature. VG and VD revised the paper for
critically important intellectual content. All authors approved the final
version to be published.
Competing interests: None stated.
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