Imaging Casebook Feingold Syndrome: Microcephaly, Esophageal Atresia, Type III Laryngeal Cleft, Malrotation, Limb Anomalies

Thomas E. Herman, MD nasogastric tube in the upper esophagus consistent with esophageal Marilyn J. Siegel, MD atresia without a distal fistula. Bronchoscopy and esophagoscopy demonstrated esophageal atresia without a proximal fistula and Journal of Perinatology (2004) 24, 568–570. doi:10.1038/sj.jp.7211144 also a type III laryngotracheoesophageal cleft. Subsequently, a gastrostomy tube was placed. An upper GI series (Figure 2) demonstrated malrotation. Therefore, a Ladd’s procedure and a CASE PRESENTATION cervical esophagostomy to manage secretions were performed. A 2085 g infant was born at 37 weeks gestation to a 36-year-old Microcephaly was present clinically and an MRI (Figure 3) gravida 2, para 1 mother. The pregnancy had been complicated by demonstrated a thin corpus callosum. Radiographs of the feet in polyhydramnios. The Apgar scores were 8 and 9 at 1 and 5 minutes the neonatal period and hand films obtained at 2 years of age of age. Postnatally, the infant became dusky with attempted (Figure 4) demonstrate shortening of all middle phalanges of the nasogastric tube placement. The initial radiography of the chest toes and slight shortening of the second and fifth middle phalanges and abdomen (Figure 1) demonstrated a gasless abdomen and a of the fingers. A cardiac sonogram demonstrated a large paramembranous VSD. The patient underwent dilatation of the esophageal pouch and primary reanastomosis of the esophagus. The type III laryngotracheoesophageal cleft was also repaired prior to the esophageal reanastomosis.

Figure 1. Anteroposterior radiograph of the chest and upper abdomen at birth. A nasogastric tube is in place ending at the thoracic inlet. The abdomen is gasless. The ﬁndings are consistent with esophageal atresia without a distal ﬁstula.

Mallinckrodt Institute of Radiology, St. Louis Children’s Hospital, St. Louis, MO, USA.

Address correspondence and reprint requests to Thomas E. Herman, MD, Mallinckrodt Institute of Figure 2. Single ﬁlm from an upper gastrointestinal series Radiology, St. Louis Children’s Hosipital, 510 South Kingshighway Blvd., St. Louis, MO, 63110, demonstrates malrotation with the duodenal–jejunal junction in the USA. right upper quadrant.

DENOUEMENT AND DISCUSSION The association of esophageal atresia, digital anomalies and microcephaly is consistent with Feingold syndrome. Feingold syndrome or the MMT syndrome (microcephaly, mesobrachyphalangy, tracheosophageal fistula syndrome) is a rare condition first described in 1975 by Murray Feingold. The most consistent abnormalities found are those of the hand and feet in 80 to 90% of patients.1 Brachymesophalangy, most frequently present in the feet, as in our case, is the most frequent abnormality. Clinodactyly and syndactyly also occur. The malformation of the hands and feet is essentially the same as that of Temtamy A4 brachydactyly,2 brachymesophalangy of fingers two and five and amesophalangy of toes two to five. Although the condition is autosomal dominant, 63% of patients are female.1 The autosomal dominant inheritance has been demonstrated in many families for several generations.1,3 Figure 3. Sagittal midline T1 weighted MRI image demonstrates Microcephaly is a common finding. In all, 30% of patients have craniofacial disproportion with microcephaly. The corpus callosum is esophageal atresia either with or without a tracheosophageal present and the posterior fossa is normal. fistula.4 Duodenal atresia occurs in approximately 20% of cases,4

Figure 4. Anteroposterior radiographs of the left hand (a), right hand (b) obtained at 2 years of age and of the left foot (c) and the right foot (d) from the neonatal period. The hands demonstrate small second and fifth middle phalanges (arrowheads). Slight flexion deformity at the third and fourth proximal interphalangeal joints is also present. The feet demonstrate small second and fourth middle phalanges (arrows) and absent ossification centers in the third and fifth middle phalanges. A varus fourth toe is present bilaterally which overlies the third toe. Monitoring devices are attached to the feet laterally obscuring the detail of the fifth toes.

Journal of Perinatology 2004; 24:568–570 569 Herman and Siegel Feingold Syndrome

and one case of imperforate anus with Feingold syndrome has been References described.4 The association with laryngotracheoesophageal clefts 1. Feingold M, Hall BD, Lacassie Y, Martinez-Frias ML. Syndrome of (LTEC) has not been previously reported in Feingold syndrome. microcephaly, facial and hand abnormalities, trachesophagela ﬁstula, However, LTEC is a well-known anomaly associated with duodenal atresia, and developmental delay. Am J Med Genetics 1997; esophageal atresia in as many as 20% of patients.5 69:245–9. The original family reported by Feingold had normal intelligence. 2. Alessandri JL, Grager D, Tiran-Rajofera I, et al. Feingold Syndrome. Arch However, mental retardation and learning disabilities occur in Pediatrique 2000;7:637–40. 3. Courtens W, Levi S, Verbelen F, Verloes A, Vamos E. Feingold between 52 and 90% of patients. Although microcephaly is present Syndrome: report of a new family and review. Am J Med Genet 1997; and probably accounts for the mental retardation, few anatomic 73:55–60. abnormalities or malformations of the brain have been described. 4. Vuttiker V, Wojtulewicz J, Wilson M. Imperforate anus in Feingold Syndrome. Congenital heart disease has not been mentioned in previous Am J Med Genet 2000;92:166–9. reports of Feingold syndrome. Paramembranous VSD is a relatively 5. DuBois JJ, Pokorny WJ, Harberg FJ, Smith RJH. Current management of common cardiac malformation and has as yet not required laryngeal and laryngotracheoesophageal clefts. J Pediatr Surg 1990;25: surgical closure in the patient reported herein. 855–60.

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