Acrocephalopolysyndactylous Dysplasia

At a glance

Polymalformative lethal syndrome presenting with acrocephaly, cervical cavernous lymphangioma, short neck, macroglossia, and multiple visceral malformations.

Synonym

Elejalde Syndrome. Caution: a different syndrome also named ☞Elejalde Syndrome (or Neuroectodermal Melanolysosomal Disease; Melanolysosomal Neurocutaneous Syndrome) has been described. To avoid confusion, we recommend reserving this name for the syndrome described in section “E.”

Incidence

Extremely rare abnormality of fetal development of unknown cause. Less than 10 cases have been described.

Genetic inheritance

Autosomal recessive trait is most likely. No genetic background or molecular data are available. Parental consanguinity was a risk factor in some, but not all cases.

Diagnosis

Made at birth based on the clinical findings.

Clinical aspects

High birth weight (above 90th percentile) due to generalized obesity with swollen and globular body shape and grossly distended abdomen (omphalocele was present in approximately half the patients). Craniosynostosis (acrocephaly) has been described in about half of the cases. The neck appears short with redundant skin folds with or without cavernous lymphatic malformation, the ears may be dysplastic and low set, the chest is broad, but short with hypoplastic lungs, the kidneys are enlarged, dysplastic and multicystic, and the liver is enlarged and ascites may be present. The limbs are micromelic with postaxial polydactyly. The skin is thick and edematous. One patient had a complex cardiac malformation (tricuspid atresia, hypoplastic right ventricle, truncus arteriosus arising from the left ventricle, and ventricular septal defect). Vertebral anomalies, anal atresia, splenic malformations, and fibrosis of liver, kidneys, esophagus, and skin have been described in some cases.

Precautions before anesthesia

No data on the anesthetic management or pharmacological implications of this syndrome exist and the fact that most patients are either stillborn or die within a few hours after birth makes it unlikely that they present for anesthesia. However, one could be faced with one of these patients during resuscitation attempts immediately after birth. Evaluate for possible airway obstruction and difficult tracheal intubation related to short neck, craniofacial, and vertebral anomalies. Vascular access is most likely very difficult and an intraosseous approach may be indicated, but even that might be difficult given the anatomic anomalies. Precautions before anesthesia and anesthetic considerations would have to take craniosynostosis, lung hypoplasia, renal and liver failure, and omphalocele into account. Cardiac anomalies might be present and a prostaglandin infusion may be needed to maintain patency of the ductus arteriosus until further test results (echocardiography) are available. If time allows, assess renal and liver function (complete blood count and serum electrolytes, urea, creatinine, coagulation, transaminases) and obtain a urine analysis.

Anesthetic considerations

In case of suspected difficult tracheal intubation, maintenance of spontaneous ventilation ...