Polymalformative syndrome presenting with acrocephaly,
cervical cavernous lymphangioma, multiple visceral malformations, short
neck, and macroglossia. May be associated with Beckwith-Wiedemann syndrome
Elejalde Syndrome. (A different syndrome also called
Elejalde Syndrome has been described.) To avoid confusion, we recommend
reserving this name for the syndrome described in section “E.”
Extremely rare abnormality of fetal development of
unknown cause. Four cases have been reported.
Autosomal recessive trait most possible. No
genetic background or molecular data are available.
At birth, the diagnosis is made
based on the clinical aspect: high birth weight, swollen and globular body,
short neck with redundant skin folds, postaxial polydactyly, omphalocele,
and enlarged liver and kidneys with renal dysplasia. Craniosynostosis has
been described in one case.
No published data on the anesthetic
management or pharmacological implications in this syndrome are available.
Precautions before anesthesia and anesthetic considerations must refer to
data concerning omphalocele, renal failure, and craniosynostosis. In
neonates, carefully look for any associated heart anomalies by
echocardiography and rule out Beckwith-Wiedemann syndrome, which combines
gigantism, macroglossia, hypoglycemia, and omphalocele. Evaluate
for possible airway obstruction and difficult tracheal intubation related to
short neck and macroglossia. Assess renal function with blood and urine
analysis (electrolytes, urea, creatinine).
Fluid and electrolyte intake must be
adapted to renal function. In case of suspected difficult tracheal
intubation, maintenance of spontaneous ventilation is recommended until the
airway has been secured. Alternative airway management options should be
available (e.g., laryngeal mask airway, fiberoptic bronchoscope). In the
presence of an omphalocele, intrathoracic, central venous, and
intraabdominal pressures should be carefully monitored upon closure of the
Drugs with predominantly renal
elimination should be used cautiously. In case of suspected difficult
tracheal intubation, neuromuscular blockers should be avoided until the
airway has been secured. Avoid use of nitrous oxide during surgical repair
of omphalocele because of risk for bowel distension.
Thornton CM, Stewart F: Elejalde syndrome: A case report. Am J Med Genet
Nevin NC, Herron B, Armstrong MJ: An 18 week fetus with Elejalde syndrome
(acrocephalopolydactylous dysplasia). Clin Dysmorphol