S Sivasankaran, MF Omojola, NA Mir, P Pathak, Thanatophoric Dwarfism: A Report of Three Cases. 1992; 12(1): 96-100Thanatophoric dwarfism (TD) is a lethal bone dysplasia characterized by severe shortening of limbs with dwarfism. The incidence is about one in 100,000 births [1]. Males are commonly affected [2]. Antenatally, TD can be diagnosed by ultrasonography as early as 13 weeks of gestation [3][4][5][6][7]. There is an association of polyhydramnios with this condition [1]. The majority of the cases reported have been born by cesarean section mainly because of large heads and breech presentation. TD can occur as a separate entity or in association with other syndromes such as "clover leaf" deformity [8,9]. Case Reports Case 1This baby girl was born to a 25-year-old Saudi woman, gravida 5, para 5. All the previous children were normal and healthy. Apart from a previous twin pregnancy, there was no other significant antenatal or family history. The mother was admitted at term without previous booking. Ultrasound examination prior to delivery revealed polyhydramnios, breech presentation, and normal biparietal diameter with marked shortening of all limbs. She was delivered by cesarean section.On examination (Figure 1), the baby was 40 cm in length. The head circumference was 36.5 cm with a wide anterior fontanelle. There was frontal bossing with a depressed nasal bridge. The limbs were markedly short with excessive skin folds. The chest was narrow and abdomen prominent. She was grossly hypotonic and had severe respiratory distress requiring ventilatory support.A "bodygram," a full length body radiograph (Figure 2), showed typical short stature. Limb bones were all short with flaring of the metaphysis. The shafts were bowed, particularly in the femora, demonstrating the classical "telephone receiver" configuration which has been well documented. There was a wide gap between the bone ends where the joints should normally be. The hands were stubby with very short metacarpals which had flared ends. The phalanges were correspondingly small. The pelvis showed flat acetabular roof with wide triradiate cartilage and symphysis pubis. The spine showed planivertibrae with "H" configuration of the lumbar vertebrae. The ribs were short enclosing a narrow thorax, and like other bones, there was flaring of the rib ends. The clavicles were similarly affected while the scapula assumed an irregular outline. Computed tomographic (CT) scan of the head (Figures 3 and 4), obtained shortly after birth, showed patency of all the sutures with mild temporal bulging. The lateral ventricles were rather wide. The third and fourth ventricles were normal. The quadrigeminal cistern was also wide along with the superior vermian cistern. The gyri were large with short sulci. The interhemispheric fissure was prominent. Both occipital lobes showed prominent large sulci. There was a large scalp swelling over the right frontal bone extending over the orbit without any underlying body defects. She died 48 hours after birth.
The incidence of pulmonary agenesis is one in 10,000 to 15,000 autopsies [1,2], and the incidence of tracheoesophageal fistula with esophageal atresia is one in 4500 births [3]. The occurrence of both in the same patient is correspondingly rare. We report the management of such a case and suggest a change in the surgical approach to minimize the complications encountered. Case ReportA 2000-gram female infant was referred at 24 hours' age because of frothing, cyanosis, and respiratory distress. When seen on admission the baby was cyanosed and tachypneic. Auscultation of the chest showed no air entry on the left side and wheezing and crepitations on the right. The apex beat was felt in the left axilla. Abdominal findings were normal. A 10F red rubber catheter was arrested 10 cm from the gum margin.Chest x-ray study showed an opaque left hemithorax with shift of the heart to the left, an emphysematous right lung with patchy consolidation, and only ten pairs of ribs with anomalies in the upper five thoracic vertebrae ( Figure 1). The baby was ventilated mechanically and a gastrostomy done under local anesthesia. Serial chest x-ray studies showed there was no aeration of the left lung. Bronchoscopy done on day 4 showed a blind-ending left bronchus that was 1 cm long. Computed tomographic (CT) scan of the thorax confirmed the complete absence of pulmonary tissue on the left (Figure 2). On day 11 the baby underwent right thoracotomy, ligation of the tracheoesophageal fistula, and esophageal anastomosis. Postoperatively the baby was ventilated. The baby had three episodes of airway obstruction during ventilation, necessitating bronchoscopic clearance of necrotic debris and crusts which collected mainly in the blind-ending left bronchus. Postoperative chest roentgenograms showed patchy pneumonitis of the right lung. A Gastrografin swallow nine days after surgery showed an intact anastomosis. In addition there was a gradual rise in blood urea and serum creatinine levels from admission levels despite an initially normal urine output. The baby became anuric 10 days following thoracotomy and died of septicemia four days later. No investigations were done to determine the cause of renal dysfunction.
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