Congenital malformations - Edocr

220 PART VI GASTROINTESTINAL MALFORMATIONS
TABLE 33-2 Syndromes Associated with Esophageal Atresia and Tracheoesophageal Fistula
Syndrome Other Common Clinical Features Etiology
Apert syndrome Craniosynostosis, agenesis of corpus callosum, Autosomal dominant
midfacial hypoplasia, syndactyly, pulmonary
agenesis, cardiac defects, genitourinary
anomalies
CHARGE association Colobomas, heart defects, atresia of choanae, Unknown
retarded growth and development, genital
anomalies, ear anomalies
Fanconi pancytopenia Short stature, microcephaly, eye anomalies, Autosomal recessive
syndrome
radial ray defects in upper limbs,
pancytopenia, brownish pigmentation of skin
cardiac, GI and CNS anomalies
Feingold syndrome Microcephaly, limb malformations, esophageal Autosomal dominant
(Oculo-duodeno- and duodenal atresias, hypoplastic thumbs,
esophageal-digital syndactyly, cardiac and renal malformations
(ODED) syndrome)
Metaphyseal dysplasia IUGR, short limb, sparse hair, irregular sclerotic Autosomal recessive
(Cartilage-hair
metaphysic on x-rays, immunodeficiency
hypoplasia
syndrome)
Opitz syndrome Hypertelorism, hypospadias, cleft lip with X-linked and
or without cleft palate, micrognathia,
autosomal dominant
cryptorchidism, bifid scrotum, agenesis
of corpus callosum, cardiac defects
Trisomy 18 IUGR, low-set malformed ears, clenched hand, Trisomy
(Edwards syndrome) heart defects, rocker bottom feet, microcephaly,
genital anomalies
Trisomy 21 Hypotonia, brachycephaly, Brushfield spots in iris, Trisomy
(Down syndrome) short metacarpal and phalanges, simian
creases, cardiac defects, loose skin folds,
hyperlaxity of joints, flat facial profile with
upslanting palpebral fissures and inner
epicanthal folds
VACTERL Vertebral, anal, cardiac, tracheal, esophageal, Unknown, more
association renal and limb anomalies, single umbilical frequently reported
artery, spinal dysraphia, genital abnormalities in infants of diabetic
mothers
Velocardiofacial Aortic arch anomalies, cleft palate, micrognathia, Single gene disorder
syndrome ear anomalies, narrow palpebral fissures, 22q11 deletion
thymic hypoplasia, hypoparathyroidism
velopharyngeal insufficiency, diaphragmatic
hernia
Waardenburg Lateral displacement of medial canthi, deafness, Autosomal dominant
syndrome
partial albinism, VSD, neural tube defects,
supernumerary vertebrae and ribs, upper limb
defects
VSD, ventricular septal defect; IUGR; intrauterine growth retardation.