Craniomicromelic Syndrome

Barr et al. (1995) described 2 sisters with intrauterine growth retardation, shortness of all limbs, coronal craniosynostosis, micrognathia, absent or hypoplastic gallbladder, and hypoplastic ileum, lungs, uterus, and fallopian tubes. The older sister also manifested talon-like nails, bilateral absence of the middle phalanx of the index finger, and hydronephrosis; the younger sister had cleft palate. The authors suggested that craniomicromelic syndrome is a distinct autosomal recessive disorder.

Baralle and Firth (1999) reported a third case of craniomicromelic syndrome in a fetus at 29 weeks gestation. This infant had intrauterine growth retardation, ossification defects of the skull with posterior encephalocele, large fontanels and wide cranial sutures, absent phalanges, and digit syndactyly. The authors concluded that this case provides further support for craniomicromelic syndrome as a distinct entity.