A rare case of congenital humeroradioulnar synostosis from medieval Pawłów Trzebnicki, Poland

Abstract

Congenital synostoses are defined as rare abnormal formations of primary anatomical structures. There are three major classifications: (a) skeletal anomalies, (b) soft tissue anomalies, and (c) anomalies involving both skeletal and soft tissues. Radioulnar synostosis is the most common form of upper limb abnormality. Synostoses between the humerus and either the ulna, radius, or both have been documented but are far less common. Of these cases, the most common type is humeroradial synostosis followed by humeroradioulnar and humeroulnar synostosis. This study presents a case of a late medieval (15th–16th c. A.D) adult male skeleton housed at the Hirszfeld Institute of Immunology and Experimental Therapy of the Polish Academy of Sciences with bilateral upper limb synostosis. Macroscopic and radiographic analyses suggest a diagnosis of congenital humeroradioulnar and humeroulnar synostosis. The right radius and ulna are hypoplastic. The left radial neck was reduced. The left radial head and the radial notch of the left ulna were absent. The radiographs demonstrate that the skeletal structures of the elbow are absent, suggesting fusion of the radius and ulna. A review of the clinical and bioarchaeological literature was conducted to assess differential diagnoses for the conjoined humerus, radius, and ulna. To the best of the authors' knowledge, this is the first case of congenital humeroradioulnar synostosis in the paleopathological literature.

Sporadic Class II Congenital humeroradial synostosis and Left Micromelia in a three-and-a-half-months female Ghanaian infant

“…CHRS is a rare musculoskeletal condition where there is an abnormal fusion of the bones that make the elbow joint [3] . Even though the exact etiology is unknown, it has been linked to factors such as genetic contributions and cocaine abuse [4] .…”

“…Congenital humeroradial synostosis (CHRS) is 1 of 3 rare developmental anomalies occurring in the elbow joint, with a reported prevalence of < 1/1,000,000, the other 2 being fusions between the humerus and ulna, or with both radius and ulna (with humeroradial synostosis being the commonest among the elbow joint bone fusions) [ 1 , 2 ]. Radioulnar synostosis though also rare, is more common than fusion abnormalities about the elbow joint [3] . The exact cause of CHRS is unknown however, the condition has been linked to genetic factors and cocaine use during pregnancy [4] .…”

Humero-radio-ulnar synostosis: a case report with brief literature search

“…Congenital synostoses are defined as rare abnormal formations of primary anatomical structures. 1 Upper extremity synostoses are characterized by the fusion of upper extremity bones ensuing in the incapability to bend and/or rotate the forearm, subject upon the type of elbow synostosis. Congenital humero-radio-ulnar synostosis is an extremely rare condition.…”

Bilateral Congenital Humeroradial Synostostis Presenting with Bilateral Proximal Radius Fractures: A Case Report

“…In class I, which is mostly sporadic, the elbow is held in extension in about 75% of cases, and it is associated with ulnar ray hypoplasia. In contrast, in class II, which is nearly exclusively familial, the elbow is held in flexion in around 3 quarters of cases, and it is not associated with ulnar ray hypoplasia [1]. Class II HRS is frequently associated with Antley-Bixler syndrome, Pfeiffer syndrome, Apert syndrome, and multiple synostosis syndrome [5].…”

“…Synostosis at the elbow is an uncommon condition that results from either skeletal malformations, soft tissue anomalies, or both [1]. The basis of this abnormality is the failure of separation and retention of the cartilaginous connection between bones around the elbow joint, which then undergoes endochondral ossification [2].…”