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At a glance

A severe lethal syndrome combining disproportionately large head with peculiar facies and bilateral talipes equinovarus.

History

First described in three siblings in 1981 by the American physicians James P. Crane and Robin L. Heise.

Incidence

Unknown. Less than 10 cases have been described.

Genetic inheritance

Most likely autosomal recessive transmission. Parental consanguinity was observed in some, but not all, cases.

Diagnosis

Based on the clinical findings.

Clinical aspects

This is a complex and severe polymalformative syndrome with profound intrauterine growth retardation. Craniofacial anomalies include macrocephaly with disproportionately small face, deficient mineralization of the calvaria (or even absence of the frontal, parietal, and occipital bones), severe hypertelorism, low-set and posteriorly rotated ears with hypoplastic helix, depressed nasal bridge, wide and upturned nares, lateral cleft lip, cleft palate, or even absence of hard and soft palate, and severe micrognathia/retrognathia. Agenesis of the corpus callosum, absence of the cingulate gyrus, and increased ventricular size have been reported, but are inconstant features. Skeletal features are characterized by short neck and absence of the cervical vertebrae C1-C6, absent or abnormal clavicles, hypoplastic scapulae, dislocated radial heads, 11 rib pairs, contractures of large and small joints, hypoplastic or absent middle phalanges of hands and feet, Simian crease, soft tissue syndactyly of fingers and toes, and talipes equinovarus. Absence of the pubic bone was described in two patients. Additional inconstant findings include hirsutism or absence of scalp and body hair, glossoptosis, hypoplastic lungs, esophageal stenosis, esophageal atresia, redundant bowel loops, hypogonadism/cryptorchidism and hypoplastic external genitalia (micropenis), spleen anomalies, and redundant loops of bowel with aberrant attachments have been described. Cardiovascular anomalies are inconstant and may consist of thin myocardium and thick-walled ascending aorta and pulmonary artery. Intrauterine death/termination of pregnancy or death from respiratory distress in early infancy is common. One child underwent craniectomy for congenital craniosynostosis and reportedly survived the operation without adverse effects.

Precautions before anesthesia

Assess the airway and the craniofacial anomalies, but difficult airway management is almost certain. The cervical spine anomalies can be profound, thus thorough assessment is required and may involve radiographic studies (x-ray, CT- and or MRI scans). Check for calvarial defects. The cardiovascular anomalies seem to be mild, but if in doubt, request an echocardiogram.

Anesthetic considerations

Difficult tracheal intubation should be anticipated, thus maintaining spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. ...

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