BACKGROUND: People with achondroplasia exhibit distinct physical characteristics, but their cognitive abilities remain within the normal range. The challenges encountered during surgical procedures and perioperative care for achondroplastic individuals, are underrepresented in the existing literature.
METHODS: In this report, the management of a 26-year-old North-African achondroplastic male is highlighted. The patient suffered a complete intra-articular distal femur fracture (AO/OTA 33-C1) and an ipsilateral patella fracture (AO/OTA 34-C1). The patient\'s unusual anatomical variations and the lack of suitable orthopedic implants posed significant surgical challenges, particularly in the context of a resource-limited developing country. Facial and spinal deformities, which are common in patients with achondroplasia, further complicated the anesthetic approach.
CONCLUSIONS: The limited information on operative management of fractures in achondroplastic patients necessitated independent decision-making and diverging from the convenient approach where clear guidance is available in the literature.

BACKGROUND: Achondroplasia is a common skeletal dysplasia with a high prevalence of obesity in adulthood. Bariatric surgery has been shown to be effective in treating obesity and related comorbidities, but its feasibility and effectiveness in patients with achondroplasia have not been clearly established.
OBJECTIVE: The objective of this study was to evaluate the feasibility and effectiveness of bariatric surgery in patients with achondroplasia.
METHODS: This study was performed in France, and bariatric surgeons from the Société Française et Francophone de Chirurgie de l\'Obésité et des Maladies Métaboliques (French Francophone Society of Surgery for Obesity or Metabolic Diseases) were asked to participate.
METHODS: Two adult women with confirmed achondroplasia and a high BMI were selected for laparoscopic sleeve gastrectomy. Preoperative data were collected, including demographic information, comorbidities, and follow-up at 1, 3, and 6 months and 1 year after surgery. Complications were monitored and recorded.
RESULTS: Both patients had good excess weight loss outcomes, with an average excess weight loss of 60.5% 1 year after surgery. One patient had a follow-up of 3 years and an excess weight loss of 44%. The surgery was well-tolerated, and no major complications were observed.
CONCLUSIONS: Bariatric surgery is feasible and effective in patients with achondroplasia, with good outcomes for excess weight loss and related comorbidities. These findings suggest that bariatric surgery should be considered a treatment option for patients with achondroplasia and obesity.

Skeletal dysplasia, also called osteochondrodysplasia, is a category of disorders affecting bone development and children\'s growth. Up to 552 genes, including fibroblast growth factor receptor 3 (FGFR3), have been implicated by pathogenic variations in its genesis. Frequently identified causal mutations in osteochondrodysplasia arise in the coding sequences of the FGFR3 gene: c.1138G>A and c.1138G>C in achondroplasia and c.1620C>A and c.1620C>G in hypochondroplasia. However, in some cases, the diagnostic investigations undertaken thus far have failed to identify the causal anomaly, which strengthens the relevance of the diagnostic strategies being further refined. We observed a Caucasian adult with clinical and radiographic features of achondroplasia, with no common pathogenic variant. Exome sequencing detected an FGFR3(NM_000142.4):c.1075+95C>G heterozygous intronic variation. In vitro studies showed that this variant results in the aberrant exonization of a 90-nucleotide 5\' segment of intron 8, resulting in the substitution of the alanine (Ala359) for a glycine (Gly) and the in-frame insertion of 30 amino acids. This change may alter FGFR3\'s function. Our report provides the first clinical description of an adult carrying this variant, which completes the phenotype description previously provided in children and confirms the recurrence, the autosomal-dominant pathogenicity, and the diagnostic relevance of this FGFR3 intronic variant. We support its inclusion in routinely used diagnostic tests for osteochondrodysplasia. This may increase the detection rate of causal variants and therefore could have a positive impact on patient management. Finally, FGFR3 alteration via non-coding sequence exonization should be considered a recurrent disease mechanism to be taken into account for new drug design and clinical trial strategies.

UNASSIGNED: Achondroplasia is the most common form of dwarfism, and cesarean delivery is often required in parturients with achondroplasia due to cephalopelvic disproportion. Given the challenges for both regional and general anesthetic techniques, there is no consensus on the optimal anesthetic management for cesarean delivery in these patients.
UNASSIGNED: A search of our electronic medical records for all female patients who had a diagnosis of achondroplasia and had a delivery in our health system from January 1, 2001 through June 16, 2023 was performed. Institutional review board exemption was obtained.
UNASSIGNED: We identified seven achondroplastic patients with 12 cesarean deliveries and described their anesthetic management during labor and delivery.
UNASSIGNED: Despite the historical preference of general anesthesia in achondroplastic patients due to concerns of unpredictable spinal anatomy and unreliable local anesthetic spread, neuraxial anesthesia was successfully utilized in achondroplastic parturients and is a viable option in carefully selected patients. Reduction of intrathecal local anesthetic dose that minimizes the risk of high spinal and emergent intubation, as well as a titratable neuraxial technique, can be effective in this patient population.

Pseudoachondroplasia (PSACH) is a rare, dominant genetic disorder affecting bone and cartilage development, characterized by short-limb short stature, brachydactyly, loose joints, joint stiffness, and pain. The disorder is caused by mutations in the COMP gene, which encodes a protein that plays a role in the formation of collagen fibers. In this study, we present the clinical and genetic characteristics of PSACH in two Chinese families. Whole-exome sequencing (WES) analysis revealed two novel missense variants in the COMP gene: NM_000095.3: c.1319G>T (p.G440V, maternal) and NM_000095.3: c.1304A>T (p.D435V, paternal-mosaic). Strikingly, both the G440V and D435V mutations were located in the same T3 repeat motif and exhibited the potential to form hydrogen bonds with each other. Upon further analysis using Missense3D and PyMOL, we ascertained that these mutations showed the propensity to disrupt the protein structure of COMP, thus hampering its functioning. Our findings expand the existing knowledge of the genetic etiology underlying PSACH. The identification of new variants in the COMP gene can broaden the range of mutations linked with the condition. This information can contribute to the diagnosis and genetic counseling of patients with PSACH.

暂无摘要。

UNASSIGNED: The aim of this case report is to describe the dentofacial manifestations of achondroplasia and highlight concerns associated with dental management of pediatric patients with achondroplasia.
UNASSIGNED: Achondroplasia is the most common form of skeletal dysplasia (dwarfism) with clinical manifestations including disproportionate limb shortening and stunted stature. The craniofacial characteristics of achondroplasia are relative macrocephaly, depression of the nasal bridge, and maxillary hypoplasia. Special precautions are necessary during dental management of pediatric patients with achondroplasia due to a large head size, implanted shunts, airway obstruction, and difficulty in head control.
UNASSIGNED: A 6 years and 7 months male, the patient was diagnosed with achondroplasia, currently receiving vitamin D, no known drug allergy, and a mixed dentition stage with multiple caries, mouth breather, and a high risk of further caries based on a caries risk assessment due to poor oral hygiene. As the patient was uncooperative and required extensive dental care, dental rehabilitation was conducted under general anesthesia using oral intubation due to nasal obstruction. Future examinations were planned for every 3 months.
UNASSIGNED: The current case demonstrated that the characteristics of achondroplasia might cause respiratory, neurological, skeletal, orthodontic, and psychological difficulties. Pediatric dentists who treat these patients must be able to detect these characteristics and difficulties, as dental treatment is limited by practical issues associated with this condition.
UNASSIGNED: The characteristic features of achondroplasia are attributed to skeletal, respiratory, neurologic, orthodontic, and psychosocial issues. The dentist should be aware of the features of achondroplasia, which can potentially restrict dental management.
UNASSIGNED: Almutiry A, Alotaibi F, Almutiry B, et al. Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View. Int J Clin Pediatr Dent 2023;16(2):409-415.

暂无摘要。

Achondroplasia is an autosomal dominant inherited disorder that results in premature ossification of the epiphyseal growth plates and restriction of proximal long bone movement. Herein, we report the anesthetic management of such a patient undergoing stone retrieval in the lithotomy position. He had a restricted ability to flex and abduct the hip joint and lumbar hyperlordosis. These were anticipated to be a concern for the lithotomy position and prone to positional injuries. Hence, the decision was made to position the patient before induction of anesthesia in the presence of surgeons to ensure the optimal exposure needed for the procedure while avoiding any hyperflexion or abduction of the hip and knee joints. The position tolerated by the patient when awake and unsedated should be followed intraoperatively. Achondroplasia is also associated with difficult airway features, obesity, sleep apnea, and multisystem involvement. Careful preoperative evaluation and intraoperative vigilance are needed to manage these patients undergoing surgery.

Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000-30,000 newborns, which is an autosomal dominant inheritance disease. Despite similar imaging features, the homozygous achondroplasia is absolutely lethal due to thoracic stenosis, whereas heterozygous achondroplasia does not lead to fetal death.
A fetus with progressive rhizomelic short limbs and overt narrow chest was detected by prenatal ultrasound in the second trimester. Gene sequencing results of amniotic fluid sample indicated a rare missense variant NM_000142.4: c.1123G > T(p.Gly375Cys), leading to a glycine to cysteine substitution. Re-sequencing confirmed that it was a heterozygous variant, and thoracic stenosis was then confirmed in the corpse by radiological examination.
We identified a heterozygous variant of the FGFR3 gene as the rare pathogenic variant of severe achondroplasia in a fetus. Heterozygous variants of p.Gly375Cys may have a severe phenotype similar to homozygote. It\'s crucial to combine prenatal ultrasound with genetic examination to differentiate heterozygous from homozygous achondroplasia. The p.Gly375Cys variant of FGFR3 gene may serve as a vital target for the diagnosis of severe achondroplasia.