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A severe and lethal disease combining major craniofacial, cardiac, and skeletal anomalies.

Three cases have been reported, two were sisters and one was a female fetus of 29 weeks' gestation. Most likely autosomal recessive transmission.

Numerous, severe abnormalities associated with intrauterine or neonatal death occur. The defects in these patients included intrauterine growth retardation with delayed or absent ossification, deficient skull bones, large fontanelles with wide cranial sutures, and macrocephaly. The superior portion of the parietal bones and frontal bones were deficient in one of the patients, leaving a 4-cm diameter space over the vertex. Central nervous system anomalies consisted of dilatation of the frontal horns of the lateral ventricles, “splayed” cerebellar hemispheres, irregular falx cerebri, and a posterior encephalocele containing brain tissue. Facial features consisted of low-set ears, protruding nasal spine, micrognathia, retrognathia, and cleft palate. The chest appeared narrow with normally lobulated but hypoplastic lungs and an enlarged heart. The urinary system was dilated with decreased lobulation of the kidneys. The gallbladder was absent, the intestine was short and partially distended, and the uterus was hypoplastic. Skin creases were abnormal and the fingers appeared short as a result of cutaneous syndactyly of all five fingers. Syndactyly of the toes with a bilateral sandal gap was seen.

It is highly unlikely that these patients will present for anesthesia. Tracheal intubation would be expected to be very difficult, as could peripheral venous access because of limb anomalies. Cardiac, pulmonary, and renal function most likely would be severely abnormal and require extensive preoperative assessment.

Baralle D, Firth H: Craniomicromelic syndrome: Report of a third case. Am J Med Genet 87:360, 1999.  [PubMed: 10588845]
Barr M, Heidelberger KP, Comstock CH: Craniomicromelic syndrome: A newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation. Am J Med Genet 58:348, 1995.  [PubMed: 8533844]

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