Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.

Is there a persistent capital femoral epiphysis growth after screw fixation for slipped capital femoral epiphysis?

Femoral neck screwing during child development is controversial. The objective of this study was to evaluate the residual growth of the capital femoral physis after screw fixation. This retrospective study included children aged younger than 12 years treated for slipped capital femoral epiphysis (SCFE) with a single percutaneous partially threaded cannulated screw. The children were followed up for at least 1 year. Some patients also underwent prophylactic contralateral screwing. Preoperative, immediate postoperative and final follow-up X-rays were evaluated to determine the degree of slippage, pin-joint ratio (PJR), neck-pin ratio (NPR), number of threads crossing the physis, neck-shaft angle (NSA), screw-physis angle and screw position in the physis. We included 17 patients (29 hips: 18 SCFE and 11 prophylactic) with a mean age of 10.1 years (range: 7.1-11.9 years) at the time of surgery. Significant evolution of radiological growth parameters of the proximal femoral physis was noted during a mean follow-up of 2.4 years (range: 1-4.3 years). The mean PJR significantly decreased from 7.3 to 6.0, the mean NPR significantly decreased from 106 to 96 and the mean number of threads beyond the physis decreased from 3.3 to 1.8. The mean NSA decreased by 6.5°, from 139° to 132.5°. Persistent capital femoral epiphysis growth occurs after screw fixation. The NSA significantly decreases over time but remains within the physiological limits. Level of evidence: IV (case series).

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.

Does arthroscopic resection of a too-long anterior process improve static disorders of the foot in children and adolescents?

PURPOSE: A too-long anterior process of the calcaneus is a common cause of pain and hind-foot instability. Our goal was to evaluate the early results of arthroscopic resection in terms of static foot disorders in children and adolescents. METHODS: We retrospectively studied 11 ft (10 patients). The inclusion criteria were treatment of TLAP by arthroscopic resection and a minimum follow-up period of six months. Surgery was indicated in cases with persistent symptomatic TLAP resistant to orthopaedic treatment. RESULTS: The mean age at surgery was 11 (range, 7-15) years. The mean follow-up duration was 15 (range, 8-28) months. Pre-operatively, we diagnosed four flat feet, two cavus feet and five feet with normal footprints, but loss of physiological hind-foot valgus. All patients presented with subtalar joint stiffness. At the last follow-up, four feet with no hind-foot valgus were normal, two were unchanged and the other feet had improved. The mean AOFAS increased from 61.9 (range, 47-73) to 89.1 (range, 71-97; P = 0.009). The mean radiological angles were near normal, exhibiting significant improvements in the lateral talo-metatarsal and Djian-Annonier angles. CONCLUSIONS: Arthroscopic resection of a TLAP is safe. In the short term, the restoration of subtalar mobility reduces pain, and improves instability and static disorders. Longer follow-up of a larger patient series is required.

Long-term Results After Extensive Soft Tissue Release in Very Severe Congenital Clubfeet.

BACKGROUND: The purpose of this study was to determine the long-term results, at an average follow-up of 22 years, in 66 patients (105 clubfeet) with very severe congenital idiopathic clubfeet according to the Dimeglio-Bensahel scale. METHODS: Patients were treated with an extensive soft tissue release in infancy. Results of the treatment were assessed according to the 100-point system of Ghanem-Seringe. At the latest follow-up, all participants were evaluated with regard to pain and the overall function of the lower extremities. At the latest follow-up, anteroposterior and lateral radiographs of the affected foot and the contralateral normal foot, when applicable, were performed. RESULTS: In total, 92% of the patients were satisfied. The mean functional score of Ghanem-Seringe was 70.4 points. No foot had an excellent result, 19 feet had a good result, 16 had a fair result, and 70 had a poor result. A total of 86 feet were painful after strenuous activities or during walking. Eleven patients walked with a limp. In total, 82 feet were stiff. Ankle dorsiflexion and plantar flexion averaged 4.0±4.5 degrees and 19.9±10.7 degrees. Bone deformations such as flattening of the talar dome were observed in 93 feet. Among these feet, the Ghanem score was significantly lower (P<0.05). Necrosis of the navicular was present in 28 feet and subluxation in 82 feet. In total, 32 feet had moderate osteoarthritis. DISCUSSION: Results revealed that despite anatomically and radiologically imperfect clubfeet, most patients demonstrated satisfaction. Satisfaction was not significantly correlated with residual deformity, but with the sensation of a normal gait by the patient and the high initial Dimeglio-Bensahel score. Female patients were significantly less satisfied than male patients because they were more constrained in their social life than boys. Their main dissatisfaction was the atrophy of the calf. We noted several residual deformations. Plantar release seems to contribute to the high rate of overcorrection in our series. Extensive posterolateral and plantar releases in very severe clubfeet was responsible for sequelae, morphologic, anatomic, and functional, especially in adulthood. Deterioration of results over time was confirmed by our series. LEVEL OF EVIDENCE: Level IV.