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

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Approximately 10 cases have been described. Most likely autosomal recessive transmission. Parental consanguinity was observed in some, but not all cases.

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This complex polymalformative syndrome with severe intrauterine growth retardation may involve the head and neck (macrocephaly with disproportionate small face, deficient mineralization of the calvaria [or even absence of frontal, parietal, and occipital bones], agenesis of the corpus callosum, absence of the cingulate gyrus, increased ventricular size, severe hypertelorism, low-set and posteriorly rotated ears with hypoplasia of the helix, depressed nasal bridge, wide and upturned nares, lateral cleft lip, cleft palate, or even absence of hard and soft palate, severe micrognathia/retrognathia, short neck) and the skeleton (absent cervical vertebrae, absent or abnormal clavicles, hypoplastic scapulae, 11 rib pairs, large and small joint contractures, club foot, hypoplastic distal middle phalanges, soft tissue syndactyly of fingers and toes). Either hirsutism or absence of scalp and body hair, esophageal stenosis, redundant bowel loops, hypoplastic external genitalia, hypogonadism, and cryptorchidism have been described, but are not constant features. Cardiovascular anomalies are inconstant and may consist of thin myocardium and thick-walled ascending aorta and pulmonary artery. Intrauterine death or death in early infancy is common.

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It is unlikely that these patients present for anesthesia. Difficult tracheal intubation should be anticipated, and maintenance of spontaneous ventilation is recommended until the airway has been secured. Subclavian central venous access should be avoided because of clavicular malformations. Careful intraoperative positioning is required, and the brain must be protected from external pressure in the absence of cranial bones.

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Fetal Aminopterin Syndrome: A polymalformative teratogenic syndrome characterized by short stature, skull anomalies, hydrocephalus, and facial anomalies (abnormal auricles, hypertelorism, micrognathia, cleft palate).

Barnicoat AJ, Seller MJ, Bennett CP: Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS). Clin Dysmorphol 3:353, 1994.  [PubMed: 7894742]
Crane JP, Heise RL: New syndrome in three affected siblings. Pediatrics 68:235, 1981.  [PubMed: 7267231]
Zand DJ, Carpentieri D, Huff D, et al: Crane-Heise syndrome: A second familial case report with elaboration of phenotype. Am J Med Genet 118A:223, 2003.

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