We aimed to understand the etiology behind the abnormal craniofacial contour and other clinical presentations in a number of children with Robinow syndrome. Seven children with Robinow syndrome were enrolled in this study (autosomal recessive caused by homozygous mutations in the ROR2 gene on chromosome 9q22, and the autosomal dominant caused by heterozygous mutation in the WNT5A gene on chromosome 3p14). In the autosomal recessive (AR) group, the main clinical presentations were intellectual, disability, poor schooling achievement, episodes of headache/migraine, and poor fine motor coordinative skills, in addition to massive restrictions of the spine biomechanics causing effectively the development of kyposcoliosis and frequent bouts of respiratory infections. Three-dimensional reconstruction computed tomography scan revealed early closure of the metopic and the squamosal sutures of skull bones. Massive spinal malsegmentation and unsegmented spinal bar were noted in the AR group. In addition to severe mesomelia and camptodactyly, in the autosomal dominant (AD) group, no craniosynostosis but few Wormian bones and the spine showed limited malsegemetation, and no mesomelia or camptodactyly have been noted. We wish to stress that little information is available in the literature regarding the exact pathology of the cranial bones, axial, and appendicular malformations in correlation with the variable clinical presentations in patients with the 2 types of Robinow syndrome.

Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.

Carpal bone bipartition is a developmental variant resulting in the division of a normally singular carpal into two distinct segments. Cases involving the scaphoid are best known, though many other carpals can be affected, including the trapezoid. Six new examples of bipartite trapezoids, identified in African and Asian anatomical and archeological samples, are reported here and compared with the eight previously known. While the site of bipartition is consistent, the resulting segments exhibit variability in their articulations with neighboring carpals. Five of the six affected trapezoids were identified in African or African-derived samples, yielding a significantly higher frequency (0.323%) of bipartite trapezoid than seen in anatomical or archeological series of European origin. Bilateral bipartite trapezoids in archeological remains from the Mid Holocene site of Gobero (Niger) are potentially the oldest bipartite carpals yet identified in humans. Their discovery may indicate that trapezoid bipartition is a condition that has been present in African populations since prehistoric times, though more data are needed. Because bipartite carpals may be symptomatic and can occur as part of syndromes, the significant population variation in frequency identified here has potential utility in both anatomical and clinical contexts. However, a comparison of the morphological appearance of bipartite trapezoids with the suggested criteria for bipartite scaphoid diagnosis indicates that these criteria are not equally applicable to other carpals. Fortunately, due to the rarity of fracture, identification of the bipartite trapezoid and separating it from pathological conditions is considerably easier than diagnosing a bipartite scaphoid.