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
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