CLINICAL
BRIEFS
Indian J Pediatr 1992; 59 : 755-766
Diastrophic Dysplasia : A Case Report L. Mehta, I.C. Verma, J.P. Soni and R.U. Singhania*
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi and *LSS Pediatrics Hospital & Research Centre, Kota, Rajasthan Diastrophic dysplasia is a skeletal dysplasia characterised by short stature, talipes equinovarus, joint contractures, cleft palate and ear abnormalities. We describe a 11 months old boy presenting with short stature, in whom the diagnosis was made by the presence of the characteristic ear abnormality, and in whom the condition was relatively milder than usually reported. Clinical examination is sufficient to distinguish this condition from other skeletal dysplasias. The features of diastrophic dysplasia include scoliosis, hand and foot detbrmities particularly severe talipes equinovarus, cleft palate, malformed ears with swelling of the pinna and a characteristic "hitchhiker thumb" due to deformity of the first metacarpal. ~ We diagnosed the disorder in an infant on the basis of the ear abnormality, which in association with the skeletal dysplasia suggests the diagnosis. We present this case report to highlight the interesting clinical features which should be readily recognizable by the clinician.
both ears at 1 week of age and also had limited movements of the elbow and a weak voice. His developmental milestones were normal. When examined he weighed 7.35 kg; he was proportionately short, height being 65 cm. He had bilateral swellings of the upper pinnae (Figure 1). He had a small mouth and jaw with a broad philtrum. His neck was short, scoliosis of the thoracolumbar spine was present and the thorax was short with pectus excavatum (Figure 2). He had short thumbs and a simian crease
CASE R E P O R T The 11 months old boy presented with poor growth and multiple congenital abnormalities. His parents were first cousins and he had one older brother who was normal. At birth he weighed 3.2 kg and length was 47 cm. He developed swelling of the pinnae of Fig. 1. Ear deformity and swelling
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THEINDIANJOURNALOF PEDIATRICS
on one hand; the characteristic hitchhiker's ~umb position was absent. There was flexion deformity at the elbows and hips. His , lower limbs appeared thickened and mild bowing was present (Figure 2). Important negative findings were absence of talipes and clefting. Hearing was normal. Skeletal survey showed diminished density of bone with metaphyseal widening and fraying. Epiphyses were irregular and stippled (Figure 3). Vertebrae had dense centres with mild beaking. Rib ends were widened. DISCUSSION
Fig. 2. Full body view of the patient showing limb and chest deformity.
Most cases of diastrophic dysplasia present with the features mentioned above, however occasional mild cases have been reported where clubfoot is less refractory to therapy than in the regular form) A lethal variety with congenital heart defect has also been reported3 Our patient appears to fall into the mild category having no foot deformity of note and no hitchhiker's thumb. In a review of 71 patients by Horton et al3, only 4 had the milder variety; all 4 had hand and foot deformities and joint limitation; ear abnor-
Fig. 3. X-ray film of the knees showing irregular, stippled epiphyses and widening and thickened metaphyses.
MEHTA ET AL : DIASTROPHIC DYSPLASIA
reality was present in only 1 of them. In the severe variety, palatal, hand and foot deformity, joint limitation and ear abnormality were common. The hand deformities consist of symphalangism, hitchhiker's thumbs and ulnar deviation and the foot deformities of talipes or metatarsus adductus. The peculiar ear swellings have been attributed to hypertroplried cartilage and appear in early infancy; in later life ossification of these swellings can take place. Complications may include respiratory obstruction from laryngeal stenosis in infancy; neurological problems due to cord compression may develop. Mean adult height is about 125 cm. 4 The condition is autosomal recessive; parental consanguinity supports the diagnosis in our case. Prenatal diagnosis of the condition has been successful using ultrasound to detect the foot abnormality, and even the abnormal position of the thumb? In cases like ours where both these features are absent this may be difficult, and one may have to rely on limb measurements. 6
757
REFERENCES
1. McKusick VA. Mendelian Inheritance in Man. 9th edition. Baltimore and London : John Hopkins University Press, 1990. 2. Gustavson KH, Holmgren G, Jagell S, Jorulf H. Lethal and non lethal diastrophic dysplasia : A study of 14 Swedish cases. Clin Genet 1985; 28 : 321-334. 3. Horton WA, Rimoin DL, Lachman RS et al. The phenotypic variability of diastrophic dysplasia. J Pediatr 1978; 93 : 609-613. 4. Jones K1, ed. Smith's Recognizable Patterns of Human Malformation. 4th edition. Philadelphia; WB Saunders Company; 1988. 5. Gollop TR, Eigier A. Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. Am J Med Genet 1987; 27 : 321324. 6. Hobbins JC, Bracken MB, Mahoney MJ. Diagnosis of fetal skeletal dysplasia with ultrasound. Am J Obstet Gynecol 1982; 142 : 306-312.
Solitary Simple Renal Cysts in Infants V. Bhatnagar and D.K. Mitra Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi Solitary simple renal cysts are found in patients of all age groups but are fairly uncommon in children, t3 Only 54 cases have been reported in the world literature. Autopsy studies, however, reveal a 2-4% incidence? DeWeerd and Simon 4 laid down the following criteria for a solitary simple renal cyst: (i) it should be unilocular; (ii) there should be no communication with renal pel-
vis; (iii) the cavity of the cysts should be lined by epithelium; (iv) no renal elements should be contained within the cyst; (v) tile uninvolved renal tissu~ should be normal macroscopically and microscopically; (vi) only a localised region of the kidney should be involved; (vii) the renal pelvis and the ureter should bc patent. In this communication two patients with a
BRIEFS
Indian J Pediatr 1992; 59 : 755-766
Diastrophic Dysplasia : A Case Report L. Mehta, I.C. Verma, J.P. Soni and R.U. Singhania*
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi and *LSS Pediatrics Hospital & Research Centre, Kota, Rajasthan Diastrophic dysplasia is a skeletal dysplasia characterised by short stature, talipes equinovarus, joint contractures, cleft palate and ear abnormalities. We describe a 11 months old boy presenting with short stature, in whom the diagnosis was made by the presence of the characteristic ear abnormality, and in whom the condition was relatively milder than usually reported. Clinical examination is sufficient to distinguish this condition from other skeletal dysplasias. The features of diastrophic dysplasia include scoliosis, hand and foot detbrmities particularly severe talipes equinovarus, cleft palate, malformed ears with swelling of the pinna and a characteristic "hitchhiker thumb" due to deformity of the first metacarpal. ~ We diagnosed the disorder in an infant on the basis of the ear abnormality, which in association with the skeletal dysplasia suggests the diagnosis. We present this case report to highlight the interesting clinical features which should be readily recognizable by the clinician.
both ears at 1 week of age and also had limited movements of the elbow and a weak voice. His developmental milestones were normal. When examined he weighed 7.35 kg; he was proportionately short, height being 65 cm. He had bilateral swellings of the upper pinnae (Figure 1). He had a small mouth and jaw with a broad philtrum. His neck was short, scoliosis of the thoracolumbar spine was present and the thorax was short with pectus excavatum (Figure 2). He had short thumbs and a simian crease
CASE R E P O R T The 11 months old boy presented with poor growth and multiple congenital abnormalities. His parents were first cousins and he had one older brother who was normal. At birth he weighed 3.2 kg and length was 47 cm. He developed swelling of the pinnae of Fig. 1. Ear deformity and swelling
756
Vol. 59, No. 6
THEINDIANJOURNALOF PEDIATRICS
on one hand; the characteristic hitchhiker's ~umb position was absent. There was flexion deformity at the elbows and hips. His , lower limbs appeared thickened and mild bowing was present (Figure 2). Important negative findings were absence of talipes and clefting. Hearing was normal. Skeletal survey showed diminished density of bone with metaphyseal widening and fraying. Epiphyses were irregular and stippled (Figure 3). Vertebrae had dense centres with mild beaking. Rib ends were widened. DISCUSSION
Fig. 2. Full body view of the patient showing limb and chest deformity.
Most cases of diastrophic dysplasia present with the features mentioned above, however occasional mild cases have been reported where clubfoot is less refractory to therapy than in the regular form) A lethal variety with congenital heart defect has also been reported3 Our patient appears to fall into the mild category having no foot deformity of note and no hitchhiker's thumb. In a review of 71 patients by Horton et al3, only 4 had the milder variety; all 4 had hand and foot deformities and joint limitation; ear abnor-
Fig. 3. X-ray film of the knees showing irregular, stippled epiphyses and widening and thickened metaphyses.
MEHTA ET AL : DIASTROPHIC DYSPLASIA
reality was present in only 1 of them. In the severe variety, palatal, hand and foot deformity, joint limitation and ear abnormality were common. The hand deformities consist of symphalangism, hitchhiker's thumbs and ulnar deviation and the foot deformities of talipes or metatarsus adductus. The peculiar ear swellings have been attributed to hypertroplried cartilage and appear in early infancy; in later life ossification of these swellings can take place. Complications may include respiratory obstruction from laryngeal stenosis in infancy; neurological problems due to cord compression may develop. Mean adult height is about 125 cm. 4 The condition is autosomal recessive; parental consanguinity supports the diagnosis in our case. Prenatal diagnosis of the condition has been successful using ultrasound to detect the foot abnormality, and even the abnormal position of the thumb? In cases like ours where both these features are absent this may be difficult, and one may have to rely on limb measurements. 6
757
REFERENCES
1. McKusick VA. Mendelian Inheritance in Man. 9th edition. Baltimore and London : John Hopkins University Press, 1990. 2. Gustavson KH, Holmgren G, Jagell S, Jorulf H. Lethal and non lethal diastrophic dysplasia : A study of 14 Swedish cases. Clin Genet 1985; 28 : 321-334. 3. Horton WA, Rimoin DL, Lachman RS et al. The phenotypic variability of diastrophic dysplasia. J Pediatr 1978; 93 : 609-613. 4. Jones K1, ed. Smith's Recognizable Patterns of Human Malformation. 4th edition. Philadelphia; WB Saunders Company; 1988. 5. Gollop TR, Eigier A. Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. Am J Med Genet 1987; 27 : 321324. 6. Hobbins JC, Bracken MB, Mahoney MJ. Diagnosis of fetal skeletal dysplasia with ultrasound. Am J Obstet Gynecol 1982; 142 : 306-312.
Solitary Simple Renal Cysts in Infants V. Bhatnagar and D.K. Mitra Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi Solitary simple renal cysts are found in patients of all age groups but are fairly uncommon in children, t3 Only 54 cases have been reported in the world literature. Autopsy studies, however, reveal a 2-4% incidence? DeWeerd and Simon 4 laid down the following criteria for a solitary simple renal cyst: (i) it should be unilocular; (ii) there should be no communication with renal pel-
vis; (iii) the cavity of the cysts should be lined by epithelium; (iv) no renal elements should be contained within the cyst; (v) tile uninvolved renal tissu~ should be normal macroscopically and microscopically; (vi) only a localised region of the kidney should be involved; (vii) the renal pelvis and the ureter should bc patent. In this communication two patients with a
