Radial Club Hand Treated by Paley Ulnarization Generation 3: Is this the New Centralization?

(1) Background: Patients treated with the two previous generations of ulnarization developed a bump related to the ulnar head becoming prominent on the radial side of the hand. To finally remedy this problem, a third generation of ulnarization was developed to keep the ulnar head contained. While still ulnar to the wrist center, the center of the wrist remains ulnar to the ulnar head, with the ulnar head articulating directly with the trapezoid and when present the trapezium. (2) Methods: Between 2019 and 2021, 22 radial club hands in 17 patients were surgically corrected with this modified version of ulnarization. (3) Results: In all 17 patients, the mean HFA (hand-forearm-angle) correction was 68.5° (range 12.2°-88.7°). The mean ulna growth was 1.3 cm per year (range 0.2-2 cm). There were no recurrent radial deviation deformities more than 15° of the HFA. (4) Conclusions: This new version of ulnarization may solve the problem of the ulna growing past the carpus creating a prominent ulnar bump. The results presented are preliminary but promising. Longer-term follow-up is needed to fully evaluate this procedure.

Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.

Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Application of SAG caused malformations in 71% limbs including preaxial polydactyly (62%) and forearm abnormalities (43%). Retinoic acid application induced malformations in 56% of limb including preaxial polydactyly (45%) and forearm abnormalities (50%). Radial dysplasia and ulnar dimelia were observed in both experimental conditions. We demonstrate that ectopic Sonic hedgehog signalling may cause both preaxial polydactyly and predictable forearm anomalies and that these conditions could potentially be classified as one embryological group. We propose a unifying model based on known models of ectopic Sonic hedgehog signalling.

Síndrome TAR en paciente adulto sin diagnóstico previo: presentación de un caso / TAR syndrome in an adult patient without previous diagnosis, a case report

El síndrome TAR (Thrombocytopenia with Absent Radius) es una patología congénita autosómica recesiva infrecuente, caracterizada por trombocitopenia con aplasia de radio bilateral. Incluye malformaciones esqueléticas, renales, hematológicas y cardíacas. Su base genética todavía no está clara. Presentamos el caso de una paciente sin diagnóstico previo de síndrome TAR que llega a la consulta, tras haber sido evaluada por varios profesionales médicos, para el diagnóstico y el tratamiento de trastornos hematológicos, que finalmente estuvieron asociados a su síndrome congénito. (AU)

Thrombocytopenia with Absent Radius (TAR) is a rare autosomic recessive disease characterized by thrombocytopenia and bilateral radial aplasia, which includes skeletal, hematologic, renal and cardiac abnormalities. The genetics bases of this syndrome remain unclear. We report here a patient without a previous diagnosis of TAR syndrome who was seen in the clinic, after being evaluated by several medical professionals for diagnosis and treatment of blood disorders, which eventually were associated with the congenital syndrome. (AU)

VACTERL-H syndrome: first trimester diagnosis.

We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation.

Vascularized metatarsophalangeal joint transfer for radial hypoplasia.

The relatively new concept and technique of microvascular joint transplantation for the correction of the congenitally deformed wrist is presented with a series of 24 operated radial club hands. The results from the 19 upper extremities with a mean follow-up of 11 years show that the new technique will not diminish the longitudinal growth of the ulna. The ulna length in the series is now 15.4 cm in mean and will develop further and presumably better than that reported in the previous long-term studies after centralization. The superiority in wrist active mobility compared with those of some previous long-term studies is reported with total active motion of 83 degrees in mean. The radial deviation deformity has become increased by 12 degrees in mean in the long-term follow-up compared with the results reported previously by the same author in the series of the first nine patients in 1998. The balance in the growth between the supporting metatarsal joint and the distal ulna has remained satisfactory, and the resting radial deviation angle is 28 degrees in mean (range, 0 to 45 degrees) in the cases with successful joint transfer. A subluxation tendency in six of the transplanted joints is a new finding, and its prevention needs careful attention during the reconstruction. With respect to timing, the joint alignment and transplantation procedure is best performed between the ages of 2.5 and 4 years according to the current experience of the author. A pollicization is usually added after the wrist alignment procedure. This technique will give the child a period of ~10 years without any new need for surgical treatment, and usually no splinting is needed during that period. However, an additional corrective osteotomy may be needed at early puberty depending on the growth properties of the joint graft and original ulna and because of ulnar bowing. The reported technique with preoperative and postoperative measures takes a period of about one-half year, and the whole procedure is considered quite demanding as far as an adequate preoperative soft tissue distraction and the microvascular joint transplantation are concerned. It is recommended that the treatment be performed in dedicated microsurgical centers with adequate pediatric tissue transfer experience.

A case of Edward syndrome with radius aplasia / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly that reach to live birth after Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels using total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3), or free beta hCG with AFP, but the serum screening has only 50-60% detection rate with a 1-2% of false positive rate. So to cover the limitations that serum marker has, detailed ultrasound examination is also necessary and sensitivities of 65-70% were reported. We report a case of trisomy 18 fetus in which second trimester triple markers of maternal serum was normal, but by detailed ultrasound examination, unilateral radius aplasia was diagnosed cytogenetic study confirmed the fetus as trisomy 18.