Opsismodysplasia a Report of Two Cases

MOZGÁSSZERVI DIAGNOSZTIKA Esetismertetés Opsismodysplasia A report of two cases Al Kaissi A, Chehida FB, Nessib N, Ghachem MB, Kozlowski K Opsismodysplasia – Két eset ismertetése INTRODUCTION – Opsismodysplasia is a rare, severe, neona- BEVEZETÉS – Az opsismodysplasia ritka, újszülöttkori tör- tal dwarfism usually associated with fatal outcome in the first peség, amely általában fatális kimenetelû az élet elsô évé- few years of life. Up to, 2003 about 15 cases have been report- ben. 2003-ig összesen 15 esetrôl számoltak be az irodalom- ed. ban. CASE REPORT – We describe two brothers six and four years ESETTANULMÁNY – Egy hat- és négyéves testvérpár op- old with opsismodysplasia, who presented to the paediatric sismodysplasia esetét mutatjuk be. Alacsony növés és genu orthopaedic clinic with the diagnosis of short stature and genu varum deformitás miatt vizsgálták ôket a gyermekortopédiai varum deformity. rendelésen. CONCLUSION – Paediatric specialists should be aware, that KÖVETKEZTETÉS – A gyermekspecialisták az egészségügyi in rare instances, with improving medical care, they may see ellátás javulásával ritkán, de találkozhatnak olyan súlyos children with severe bone dysplasias which usually do not reach csontdysplasiában szenvedô gyermekekkel, akik nem érik el age in which paediatric orthopaedic services are required. azt a kort, amikor gyermekortopédiai ellátás szükséges. spondyloepimetaphyseal dysplasia, platyspondyly, spondyloepimetaphysealis dysplasia, platyspondylia, retarded bone age, acromelic dysplasia retardált csontkor AL KAISSI A, NESSIB N, GHACHEM MB: Service d'Orthopedie Infantile; CHEHIDA FB: Service de Radiologie Pediatrique, Hopi- tal d'Enfants, Tunis, Tunesie KOZLOWSKI K (corresponding author): Department of Medical Imaging, New Children's Hospital; Locked Bag 4001, West- mead NSW 2145, Australia. Phone/fax: (02) 9438-2562. E-mail: [email protected] 76 Érkezett: 2003. december 11. Elfogadva: 2004. január 5. psismodysplasia is a rare bone dysplasia delivery. The baby was very inactive during the usually with fatal outcome in the first few pregnancy. At birth he was 44 cm long, weighed O years of life1–8. The oldest recorded patient 2600 g, and had OFC 35.5 cm. At the age of 4 years of Maroteaux et al was 4 year and 8 month old2 and his height was 70 cm, upper segment/lower seg- that of Taybi and Lachman 5 year and 6 month old5. ment 41 cm/29 cm, weight 14 kg. The phenotypic Although the phenotype of opsismodysplasia is appearances and physical examination were similar characteristic, it is the radiographic examination to that of his brother. The only significant differ- which is decisive for the diagnosis. The diagnostic ences were opened fontanels and less severe genu features include extreme platyspondyly, markedly varum deformity. His mental development was retarded epiphyseal and carpal bone age, and normal. unique appearances of the pelvis, short tubular bones and calcaneus. Laboratory examinations C ASES REPORT The laboratory tests in both patients including rou- tine blood and urine examinations, urinary screen- Patient I. ing for mucopolysaccharides, aminoacids, organic acids, serum calcium, phosphorus and alkaline The propositus was born at 39 weeks gestation to phosphatase – were all normal. The karyotypes a G2P2 mother. The pregnancy was complicated by were normal. vaginal bleeding in the first part of pregnancy. The baby was very inactive during the pregnancy. At birth, the mother was 28 and the father 37 year- Radiographic examination old. An older sibling is normal. At birth he was 42 cm long, weighted 2430 g and had an OFC Radiographic examination documented identical 36 cm. changes in both the brothers, the differences being He presented at the Paediatric Orthopaedic Cli- only those of age (Figs. 1–5.). The changes were nic at 6 year because of short stature, bowed legs and waddling gait. His height was 75 cm, upper segment/lower segment 41 cm/34 cm, weight 19 kg, OFC 51 cm. His cranium was large in relation to the face. There was a prominent forehead, hypertelorism, depressed nasal root, anteverted nostrils, and long philtrum. The upper part of the auricle was large, deviated outwards and the helix pattern was abnormal. There was shortening of the extremities, the hands and feet being most severely affected. There was hypotonia with decrease in joint mobility and there was severe genus varum deformity. The chest was bell shaped and concave in the A-P diameter. The abdomen was protruding. The heart and abdominal ultrasound were all normal. His mental development was normal and he was doing well at school. Patient II. Fig. 1. Photograph of the two patients (6 ½ and 4 year-old). Micromelic dwarfism with disproportion- Younger brother of Patient I presented because of ately short hands and feet. Prominent forehead. Hyper- short stature and waddling gait at 4 years of age. telorism. Saddle nose. Long philtrum. Small chin. Bowed He was born following a normal pregnancy and legs M AGYAR R ADIOLÓGIA 2004;78(2):76–80. 77 a b c Fig. 2. Patient I. 1 ½ year-old. a) Flattened, anteriorly pointed vertebral bod- ies. b) Large anterior and posterior fontanels c) The ilia have a peculiar shape resembling Echidna (anteater). The acetabular roof – horizontal and concave – appear like the feet of the animal and the sacro-iliac part corresponds to its head. The femoral necks are broad and short. The pubic and ischial bones are well ossified a b c Fig. 3. Patient I. 5 year-old. a) Little change in comparison with fig. 2. a). Hyperlordosis. Horizontal position of the sacrum. b) Little change in comparison with fig. 2. c) beside of enlargement of the proximal end of the femora. c) The leg bones are short and bowed. Absence of knee ossification centers. The knee metaphyses are wide with medial elongation those of severe spondyloepimetaphyseal dysplasia. were disproportionally affected. They showed high- The diagnostic features included: extreme platys- ly unusual configuration. The proximal ends of the pondyly, widened metaphyses and markedly de- metacarpals were slightly pointed and the meta- layed epiphyseal and carpal bone age. The fontanels physes were cup shaped. The phalanges were pawn were closed in the older sibling but they were still shaped but the 2nd-4th middle phalanges were opened in the younger brother. All the tubular slightly angel shaped. bones were shortened. The short tubular bones We would like to stress two further distinctive 78 Al Kaissi A: Opsismodysplasia a b c Fig. 4. Patient I. 6 ½ year-old. a) Excessively short tubular bones. The proximal ends of the metacarpals are pointed and irregularly ossified. The distal d ends are cupped. The phalanges are pawn shaped and the 2nd-4th proximal phalanges are slighly angel shaped. Only two small carpal ossification centers are present. b) Hypoplastic/dysplastic short tubular and tarsal bones. Only 5 tarsal ossification centers are demonstrated c) A spur is present at the lateral aspect of the 1st metatarsal and 2 spurs are at the lower aspect of the calcaneus. d) MR shows hypoplastic dens of C2 and unossified posterior arch of C1 abnormalities not yet reported but documented in poses to respiratory infections4, and hypoplastic our siblings. In the feet, the 1st metatarsal presen- dens with increased C1/C2 mobility may cause ted with a medial spur and the calcaneus showed sudden respiratory death. The radiographic abnor- two spurs at the lowest aspect. In the pelvis, the malities are unique and the diagnostic difficulties shape of the iliac bones resembled echidna in full born infants may arise only if the investiga- (anteater). We do not know at what age the dis- tor is unfamiliar with the disorder. Slightly resem- tinctive features of the 1st metacarpal, the calca- bling opsismodysplasia are achondrogenesis syn- neus and the pelvis appear as the radiographic do- dromes such as achondrogenesis I, II, hypochon- cumentation of older patients with opsismodyspla- drogenesis and bone dysplasias with severe sia is inadequate. MR of the suboccipital region in platyspondyly such as platyspondylic dwarfism the first patient at the age of 6 year 6 month docu- – Torrance type4. Achondrogenesis syndromes die mented unossified, hypoplastic dens and unossi- soon after the birth. Platyspondylic dwarfism – Tor- fied posterior arch of C1. rance type – does not have such severe shortening of stature, and has different appearances of the hands, feet, pelvis and calcaneus. Exceptionally D ISCUSSION delayed bone age is another distinguishing feature of opsismodysplasia. Diagnostic difficulties may Children with opsismodysplasia succumb usually arise in aborted foetuses particularly those below in the first few years of life due to respiratory com- 16-18 weeks gestation. Abnormal histology is char- plications. Persistent muscular hypotonia predis- acterised by irregular, partly hypertrophied carti- M AGYAR R ADIOLÓGIA 2004;78(2):76–80 79 a b c Fig. 5. Patient II. 3 year-old. a) Echidna shape of the iliac bones is well demonstrated in this patient. b) Slightly bowed leg bones. Widened metaphyses with slight medial elongation. c) Proximal shortening of radius and distal shortening of ulna. Widening of the ends of the tubular bones. Markedly retarded bone age lage, decreased connective tissue and short irregu- positive with type I collagen antibody2. Familial lar trabeculae might be helpful in these circum- occurrence of opsismodysplasia in two sibs sup- stances. Immunohistochemical staining is highly ports autosomal recessive inheritance. References 1. Beemer F, Kozlowski K. Additional case of opsismodysplasia orders, and skeletal dysplasias. 4th Ed. St. Louis: Mosby-Year supporting autosomal recessive inheritance. Am J Med Genet Book; 1996. p. 872-4. 1994;49:344-7. 6. Tyler K, Sarioglu N, Kunze J. Five familial cases of opsis- 2. Maroteaux P, Stanescu V, Stanescu R, Le Marec B, Moraine modysplasia substantiate the hypothesis of autosomal reces- C, Lejarraga H. Am J Med Genet 1984;19:171-82. sive inheritance. Am J Med Genet 1999;83:47-52. 3. Santos HG, Saraiva. Opsismodysplasia: another case and lit- 7.

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