Brachyolmia, Maroteaux Type

A relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.

Epidemiology

The prevalence of this form of brachyolmia is not known. About 10 cases have been reported.

Clinical description

Patients with brachyolmia, Maroteaux type are reported to have short stature/short trunk, scoliosis and generalized platyspondyly with rounding of the anterior and posterior vertebral bodies. The vertebral bodies show less elongation compared to those in patients with other types of the disorder (autosomal recessive brachyolmia, Hobaek/Toledo type, autosomal dominant brachyolmia; see these terms). Some cases are associated with precocious calcification of the cerebral falx and non-specific minor facial anomalies. Intellectual ability is normal.

Etiology

The etiology of this form of brachyolmia is not known. The causative gene mutation has not been identified.

Genetic counseling

Brachyolmia, Maroteaux type is presumed to be autosomal recessive because of a few reported occurrences in siblings. For precise genetic counseling, however, it is essential to rule out mild skeletal dysplasias of autosomal dominant inheritance, such as mild cases with type 2 collagenopathy.