Resection Arthroplasty Is a Valuable Strategy for Humeroradial Synostosis - A Case Report.

A 15-year-old girl with humeroradial synostosis since birth underwent a resection arthroplasty. A trapezoidal resection osteotomy of approximately 2 cm was performed at the anterior part of the bone flexure. This resulted at 18 months in an elbow arc of motion of 60°-110° and forearm pronation/supination of 40° and 60° without postoperative complications and improved disabilities of the arm, shoulder and hand and Hand 20 scores. Radiographic analysis revealed a humeroradial joint with a maintained pseudarthrosis and hinged motion at the humeroulnar joint. When performed by an experienced surgeon, resection arthroplasty corrects humeroradial synostosis, resulting in improvement in range of motion and quality of life. Level of Evidence: Level V (Therapeutic).

Bilateral ulna hemimelia with humeroradial synostosis and oligodactyly: A case report.

Hemimelia denotes the partial or complete absence of the distal half of a limb. Ulna hemimelia, a rare congenital anomaly, involves the complete or partial absence of the ulna in the upper limb, with an incidence of 1 in 150,000. This condition has been classified into 4 types, with the rare Type 4 variant involving humeroradial synostosis. We present a unique case of bilateral complete ulna hemimelia, humeroradial synostosis, and oligodactyly, in an 11-month-old female with bilateral upper limb shortening and restricted elbow movement since birth. Clinical examination revealed bilateral upper limb shortening, medial deviation of both wrist joints, fixed extension of both elbow joints, and bilateral absence of the cubital fossa. Radiographs confirmed bilateral micromelia, absence of ulna, humeroradial synostosis, and oligodactyly. This case, exhibiting bilateral Type 4 ulna hemimelia with Class 1 humeroradial synostosis, is a complex variant, rarely reported, and the first documented in Ghana. It also highlights the importance of radiological assessment in ensuring accurate diagnosis. Long-term follow-up and potential surgical interventions are crucial for optimizing upper limb function in such cases.

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

Congenital humeroradial synostosis (CHRS) is a rare musculoskeletal condition that significantly affects the mobility of the elbow joint. They occur in various types and forms depending on the types and numbers of bones involved at the elbow. CHRS may present with elbow deformity and limitation of function. Appropriate timely diagnosis and counseling are required since CHRS is mostly managed conservatively according to literature and may prevent avoidable fractures of the radius from attempts by parents to straighten the flexed fixed elbow and finally offer adequate time for delayed surgical intervention which is usually ineffective and unhelpful.

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

OBJECTIVE: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to investigate the molecular etiology of Juberg-Hayward syndrome in two affected Lisu tribe brothers. MATERIALS AND METHODS: Two patients, the unaffected parents, and two unaffected siblings were studied. Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, Western blot analysis, and chromosome testing were performed. RESULTS: Two affected brothers had characteristic features of Juberg-Hayward syndrome, except for the absence of microcephaly. The elder brother had bilateral cleft lip and palate, short stature, humeroradial synostosis, and simple partial seizure with secondary generalization. The younger brother had unilateral cleft lip and palate, short stature, and dislocation of radial heads. The homozygous (c.1654C > T; p.Arg552Ter) mutation in ESCO2 was identified in both patients. The other unaffected members of the family were heterozygous for the mutation. The presence of humeroradial synostosis and radial head dislocation in the same family is consistent with both being in the same spectrum of forearm malformations. Chromosome testing of the affected patients showed premature centromere separation. Western blot analysis showed reduced amount of truncated protein. CONCLUSION: Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Roberts syndrome (also known as Roberts-SC phocomelia syndrome) is an autosomal recessive developmental disorder, characterized by pre- and postnatal growth retardation, limb malformations including bilateral symmetric tetraphocomelia or mesomelia, and craniofacial dysmorphism. Biallelic loss-of-function variants in ESCO2, which codes for establishment of sister chromatid cohesion N-acetyltransferase 2, cause Roberts syndrome. Phenotypic spectrum among patients is broad, challenging clinical diagnosis in mildly affected individuals. Here we report a 3-year-old boy with a mild phenotype of Roberts syndrome with bilateral elbow contractures, humeroradial synostosis, mild lower limb disparity, and facial dysmorphism. Trio whole-exome sequencing identified the novel biallelic splice variant c.1673+1G>A in ESCO2 in the patient. Aberrant ESCO2 pre-mRNA splicing, reduced relative ESCO2 mRNA amount, and characteristic cytogenetic defects, such as premature centromere separation, heterochromatin repulsion, and chromosome breaks, in patient cells strongly supported pathogenicity of the ESCO2 variant affecting one of the highly conserved guanine-thymine dinucleotide of the donor splice site. Our case highlights the difficulty in establishing a clinical diagnosis in individuals with minor clinical features of Roberts syndrome and normal intellectual and social development. However, next-generation sequencing tools allow for molecular diagnosis in cases presenting with mild developmental defects.