3435: Feingold syndrome with ring chromosome 13

Abstract

Objectives: Feingold syndrome, also known as MODED (microcephaly-oculo-digito-esophageal-duoden- al) syndrome is a clinically variable autosomal dominant disorder comprising hand and foot abnormalities, microcephaly short palpebral fissures, learning disability and esophageal and duodenal atresia. At least 79 patients in 25 families have been reported. Overall patterns of this syndrome exhibit marked intrafamilial variability, particularly with regard to gastrointestinal manifestations.Methods: The gene for Feinfold syndrome maps to 2p23-p24, but remains to be identified.Results: A 32-year-old multigravida was referred at 35 weeks of gestational age because of suspicion of duodenal atresia. Fetal ultrasonography showed polyhydramnios and fetal symmetric fetal growth restriction with clinodactyly and oligodactyly of both hands and “double bubble sign ” in upper abdomen of fetus. She vaginally delivered a 1560g (<10th percentile) head circumference 28.5cm (<10th percentile) female at 36 +5 weeks gestational age. She had short palpebral fissure, cleft palate, absence of thumbs, clinodactyly of second fingers and hypoplasia of fifth fingers in both hands. The examinations revealed multiple anomalies that comprised PDA, VSD and persistent foramen ovale in heart, jejunum atresia and anal atresia with cutaneous fistula. The Tapering enteroplasty, duodenojejunostomy and cut-back anoplasty were performed at age 3 days.Conclusions: A G-banded karyotype of neonate was ring chromosome 13. Objectives: Feingold syndrome, also known as MODED (microcephaly-oculo-digito-esophageal-duoden- al) syndrome is a clinically variable autosomal dominant disorder comprising hand and foot abnormalities, microcephaly short palpebral fissures, learning disability and esophageal and duodenal atresia. At least 79 patients in 25 families have been reported. Overall patterns of this syndrome exhibit marked intrafamilial variability, particularly with regard to gastrointestinal manifestations. Methods: The gene for Feinfold syndrome maps to 2p23-p24, but remains to be identified. Results: A 32-year-old multigravida was referred at 35 weeks of gestational age because of suspicion of duodenal atresia. Fetal ultrasonography showed polyhydramnios and fetal symmetric fetal growth restriction with clinodactyly and oligodactyly of both hands and “double bubble sign ” in upper abdomen of fetus. She vaginally delivered a 1560g (<10th percentile) head circumference 28.5cm (<10th percentile) female at 36 +5 weeks gestational age. She had short palpebral fissure, cleft palate, absence of thumbs, clinodactyly of second fingers and hypoplasia of fifth fingers in both hands. The examinations revealed multiple anomalies that comprised PDA, VSD and persistent foramen ovale in heart, jejunum atresia and anal atresia with cutaneous fistula. The Tapering enteroplasty, duodenojejunostomy and cut-back anoplasty were performed at age 3 days. Conclusions: A G-banded karyotype of neonate was ring chromosome 13.