Congenital distal humeral dysplasia: a case report

Abstract

Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed.

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

“…The present case has been reported earlier for malformations of distal humerus [Joseph and Varghese, ]. On re‐evaluation, we found that the subject had several distinctive dysmorphic features, which define a unique clinical phenotype.…”

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

“…16 Joseph and Varghese reported a patient with humeral dysplasia and dislocations and discussed the possibility that the condition may represent a variant of Larsen syndrome. 17 Several features may help in distinguishing CHST3-deficient recessive Larsen syndrome and HSD from classic Larsen syndrome caused by dominant FLNB mutations. Pre-and postnatal short stature are not typical of Figure 3.…”