Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type

Pediatr Radiol (1997) 27: 948±950  Springer-Verlag 1997

Maria C. d'Orey MaÂrio Mateus HercõÂlia GuimaraÄes Cristina Miguel Maria J. Costeira Rosete Nogueira Nuno Montenegro Norberto T. Santos Pierre Maroteaux

Received: 15 January 1997 Accepted: 21 March 1997

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M.C. d'Orey ( ) ⋅ M. Mateus ⋅ H. GuimaraÄes ⋅ C. Miguel ⋅ M. J. Costeira ⋅ N. T. Santos Neonatal Intensive Care Unit, Department of Paediatrics, Hospital of S. JoaÄo, Oporto Medical School, Porto, Portugal R. Nogueira Department of Pathology, Hospital of S. JoaÄo, Oporto Medical School, Porto, Portugal N. Montenegro Department of Obstetrics and Gynaecology, Oporto Medical School, Porto, Portugal

Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type

Abstract Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the Rolland-Desbuquois type is presented. The case is unusual because although it was the milder form, the child died on the 10th day of life.

P. Maroteaux HoÃpital des Enfants Malades, France

Introduction The first report of dyssegmental dysplasia (the lethal Silverman-Handmaker type) dates from 1900 and is attributed to Simmonds, who tried to illustrate the importance of X-rays in the diagnosis of osseous dysplasias [1]. The second case was published by Silverman in 1969 [2], and Gorlin and Langer described the early history of the disease [3]. In 1977, Handmaker et al. attributed the marked differences in size and shape of the vertebral bodies to errors in segmentation [4]. Aleck et al. published eight additional cases of dyssegmental dysplasia in 1987 [5]. Thirty cases were reported up to 1990. According to the literature, the clinical, radiographic and histologic examination of these cases demonstrates the presence of two distinct forms of dyssegmental dysplasia, the milder Rol-

land-Desbuquois type and the severe SilvermanHandmaker type.

Case report A female child of young, consanguineous parents was born at 39 weeks of gestation. Ultrasound at 36 weeks' gestation indicated the presence of a chondrodysplasia. The baby was born by caesarean section, resuscitated and immediately transferred to the neonatal intensive care unit, where assisted ventilation began. Birth weight was 3250 g, length was 37.5 cm and head circumference was 36.5 cm. Physical examination of the infant revealed dwarfism, macrocephaly, a narrow, short chest and short, curved limbs (microcamptomelia) with talipes equinovarus. There was reduced joint mobility. The facies were dysmorphic with hypoplastic supraorbital ridges, mild blepharophimosis and a flat nasal bridge. The mandible was small, there was a cleft palate and the neck was very short (Fig. 1).

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Fig. 1 Clinical photograph showing macrocephaly, short limbs and trunk, narrow chest and microcamptomelia with talipes equinovarus. Note the unusual facies with mild blepharophimosis, flat nasal bridge, hypoplastic supraorbital ridges, small mandible and short neck Fig. 2 a Radiograph showing shortening of all tubular bones with metaphyseal cupping and bowing of the legs, short trunk and narrow thorax, anisospondyly and rounded ilia and scapulae. b Lateral view showing anisospondyly and segmentation defects; most vertebral bodies consist of two or more ossified masses separated by vertebral radiolucent clefts

Radiographs showed stubby and bowed long bones with widened, cupped metaphyses, short trunk and narrow thorax, anisospondyly and rounded iliac wings and scapulae (Fig. 2 a). Most vertebral bodies consisted of two or more ossified masses separated by vertical radiolucent clefts. They showed marked differences in size and shape with moderate platyspondyly (Fig. 2 b). Echocardiography and transfontanellar ultrasonography were both normal. The infant died on the 10th day of life. Histology of the long bone growth plates showed a lack of columnisation, ballooning of cartilage cells and mucoid degeneration of resting cartilage. Vertebral body morphology demonstrated a complete disorganisation of the growth plate with disorganised collagen fibres and puddle-like spaces in the cartilage matrix (Fig. 3).

Discussion Dyssegmental dysplasia has been confused with other disorders that produce symmetrical bowing of the legs. The classic camptomelic syndrome is associated with relatively long and thin bones, whereas infants with dys-

2b segmental dysplasia have quite short and wide long bones, a large skull and a narrow chest. The differential diagnosis also includes Kniest syndrome, but in this dysplasia bowing of the legs is absent and epiphyses of the knee are often large. However, the major changes in dyssegmental dysplasia are in the vertebral column, which demonstrates moderate platyspondyly, and grossly irregular segmentation defects, which are not features of the other conditions. Morphological investigation of chondro-osseous material from patients has disclosed specific differences between the severe and mild types of dyssegmental dysplasia, supporting the heterogeneity hypothesis. While growth plate histology is quite abnormal in children with the Silverman-Handmaker type, in the Rolland-Desbuquois form the abnormalities are not so severe. In both, there is disorganisation of chondrocytes, puddle-like spaces with mucoid material and fibrosis. Therefore, it was possible to diagnose this case as Rolland-Desbuquois by the distinct clinical, radiographic and morphologic features. There is probably a genetically determined deficiency in al-collagen chains, which could explain the lethality of this disease. In this case report an antenatal diagnosis of short-limbed dysplasia was made by ultrasound. The literature review suggests the possibility of more accurate prenatal diagnosis and supports the autosomal recessive inheritance of this type of micromelic dwarfism [6]. Although genetic counselling for these two types of dyssegmental dysplasia is similar, they must be distinguished so that the correct prognosis regarding survival can be offered.

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Fig. 3 a Photomicrograph of a growth plate showing poorly defined physeal growth zone with disorganisation and minimal proliferation of chondrocytes and precocious ossification. HE × 40. b Vertebral body morphology shows puddle-like spaces containing mucoid material. HE × 40

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References 1. Gorlin RJ (1987) Letter to Editor: A first description of dyssegmental dysplasia. Am J Med Genet 28: 1015±1016 2. Silverman FN (1969) Forms of dysostotic dwarfism of uncertain classification. Ann Radiol 12: 1005±1008

3. Gorlin RJ, Langer LO Jr (1978) Dyssegmental dwarfism: lethal anisospondylic camptomicromelic dwarfism. Birth defects 14 (6B): 193±197 4. Handmaker SD, Campbell JA, Robinson LD, Chinwah O, Gorlin RJ (1977) Dyssegmental dwarfism: a new syndrome of lethal dwarfism. Birth Defects 13 (3D): 79±90

5. Aleck KA, Grix A, Clericuzio C, Kaplan P, Adomian GE, Lachman R, Rimoin DL (1987) Dyssegmental dysplasias: clinical, radiographic and morphologic evidence of heterogeneity. Am J Med Genet 27: 295±311 6. Andersen PE Jr, Hauge M, Bang J (1988) Dyssegmental dysplasia in siblings: prenatal ultrasonic diagnosis. Skeletal Radiol 17: 29±31

ER R A TU M

Luc Breysem Maria-Helena Smet Stefaan Van Lierde Hugo Devlieger Kris De Boeck

Bronchopulmonary dysplasia: correlation of radiographic and clinical findings Pediatr Radiol (1997) 27: 642±646

The name Guy Marchal was erroneously added as the last author. The correct authors are as listed above.