Bipolar syndrome composed of digestive atresia and
malformations of the extremities.
Esophageal Duodenal Atresia, Abnormalities of Hands and
Congenital genetic disorder.
Probably autosomal dominant. Gene located on
Unknown. Phenotypes are similar to those observed
with 13q22-qter and 13q14 deletion.
Characterized by abnormalities of the hands and feet
with short palpebral fissures, variable microcephaly with learning
disability, and esophageal and/or duodenal atresia.
Features involve head with microcephaly,
prominent occiput, microretrognathia, high-vaulted narrow palate,
telecanthus, short palpebral fissures, low-set long ears, anteverted nares,
and broad nasal root. Cry and voice are abnormal. Limbs can present
syndactyly of toes, brachydactyly, thinning of the proximal end of the first
metacarpal with shortening of that metacarpi, and abnormal dermatoglyphs
with capillary hemangioma. Esophageal atresia, duodenal atresia, or both are
Evaluate tracheal intubation
(clinical, radiographs) because of facial malformations.
Both direct laryngoscopy and tracheal
intubation can be difficult because of microretrognathia. Patients with
tracheoesophageal fistula are at high risk for aspiration. Venous access and
pulse oximetry can be difficult because of limb malformations. Regional
anesthesia is not contraindicated, but perimedullar blockade should be
avoided in case of angioma.
Anesthetic drugs used for induction
must authorize spontaneous ventilation until airway management is realized.
Feingold Syndrome: Anomalies of the digits with short palpebral
fissures and atresia of esophagus or duodenum.
Brunner HG, Winter RM: Autosomal dominant inheritance of abnormalities of
the hands and feet with short palpebral fissures, variable microcephaly with
learning disability, and oesophageal/duodenal atresia. J Med Genet
Celli J, van Beusekom E, Hennekam R, et al: Familial syndromic esophageal
atresia maps to 2p23-p24. Am J Hum Genet
Innis JW, Asher JH, Poznanski AK, et al: Autosomal dominant microcephaly
with normal intelligence, short palpebral fissures, and digital anomalies.
Am J Med Genet