The newborn was delivered by cesarean section. The birthweight was 3.300g with the characteristic findings named before. The mother s family recognized the baby s appearance as identical to that of the one that died before. The mother and newborn were discharged in good condition. Genetic study of the newborn demonstrated a normal male karyotype.
Frontometaphyseal dysplasia is an uncommon genetic syndrome affecting bone and connective tissue.
The limbs have partial ankylosis, rough hands, arachnodactyly with elongated proximal and middle phalanges, clinodactyly of hands and feet, wide interdigital feet space with radial disposition of the toes, second toe larger than fist one. Reduced thorax with asymmetry, pectus excavatum. Other findings include cryptorchidism and congenital urinary tract malformations. Radiology shows broad long bones metaphyses, elbow, wrist and knee ankylosis, wide posterior foramen magnum and increased interpedicular distance of the lumbar spine, narrow and twisted ribs with posterior segment deformities, wide and flare iliac bones. The manifestations are more severe in males.