Disease-specific complications and multidisciplinary interventions in achondroplasia

Kitoh, Hiroshi; Matsushita, Masaki; Mishima, Kenichi; Kamiya, Yasunari; Sawamura, Kenta

doi:10.1007/s00774-021-01298-z

Cited by 9 publications

(9 citation statements)

References 51 publications

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“…ACH patients often show rhizomelic limb shortening and macrocephaly, accompanied with ventriculomegaly and polyhydramnios, generally without fractures, aligning with previous findings 9 . It is suspected that the prenatal sphenoid and occipital bones in ACH patients may close earlier than in normal fetuses, leading to narrowing of the foramen magnum, partial obstruction of venous blood flow, increased intracranial venous pressure, ventriculomegaly, and possibly hydrocephalus 10 . In addition, a review of domestic and foreign literature shows that frontal bossing, midface hypoplasia, hands with a trident appearance, 11–13 widening appearance of the metaphysis‐diaphysis angle >90°, and “collar hoop” sign 11,14 are striking prenatal ultrasonic features.…”

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

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ObjectiveTo analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).MethodsClinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.ResultsA total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single‐gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history.ConclusionShort limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.

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Section: Discussionmentioning

confidence: 99%

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

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“…Different clinical research was introduced to find a target to treat and cure the disease [3,4,9,11,26,27,31,32,37] (Table 1). Efficacy in achondroplasia patients are clearly ruled out [10,61,63].,…”

Section: Therapeutical Targets To Treat Achondroplasiamentioning

confidence: 99%

How do we Treat Aberrant Excessive Signaling in FGF3 Receptor Pathway to Cure Achondroplasia in Childhood?

Bittmann

2023

AJBSR

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In 1878, a French physician named Joseph Marie Jules Parrot coined the term achondrodysplasia. This term is purely historical and does not explain the cause or symptoms of the disorder. Other names that were once used but are now obsolete include chondrodystrophy, chondrodystrophia fetalis, Parrot syndrome, and Kaufmann syndrome, named after the German pathologist Eduard Kaufmann. Achondroplasia is the most common form of genetic short stature, occurring in 1 out of every 20,000 births. It is considered a rare disease. Achondroplasia is caused by a specific mutation in the fibroblast growth factor receptor gene FGFR-3. This gene is located on chromosome 4p 16.3. The mutation in achondroplasia leads to an overexpression of the FGFR3 receptor, inhibiting the proliferation of chondrocytes, which are cells responsible for cartilage formation. In 96% of cases, there is a specific G (1138) A point mutation in the FGFR-3 gene. Researchers are currently focusing on developing targets that can reduce the overexpression of the FGF3 receptor and inhibit chondrocyte formation. This mutation disrupts cartilage formation, causing the growth plates in bones to ossify prematurely. This results in restricted growth, particularly in the arms and legs, leading to a disproportionate short stature where the trunk and head are relatively longer than the extremities. This article provides an overview of achondroplasia, with a special focus on current therapies and future treatment options for pediatric patients. Various targets in the FGFR3 signaling pathway are being studied in clinical research, and their potential for treating achondroplasia will be analyzed in detail. The ultimate goal is to find a cure by targeting the aberrant excessive FGF3 receptor signaling pathways. The article will discuss the FGFR3 receptor pathways in detail and mention possible clues for curing the disease.

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“…Auch die operative Versorgung der Wirbelsäule spielt eine wichtige Rolle. So sollen frühzeitig chirurgische Interventionen zur Vorbeugung irreversibler spinaler Schäden erfolgen 4 . Kriterien zur chirurgischen Intervention wurden durch Copitz (1980) und Pauli und Botto (2020) veröffentlicht 6 .…”

Section: Introductionunclassified

“…Etwa 80 % der Patienten haben eine Achondroplasie in Folge einer Neumutation bei asymptomatischen Eltern. Väter die älter als 34 Jahre sind, haben ein signifikant höheres Risiko dafür, als jüngere Väter [4].…”

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Operative Versorgung der Extremitäten und der Wirbelsäule bei Achondroplasie

et al. 2023

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ZusammenfassungDie Achondroplasie gilt als häufigste Form des genetisch bedingten Kleinwuchses. Zur Verbesserung des Wachstums erfolgen in Abhängigkeit vom klinischen Befund und vom Alter operative Eingriffe an den Extremitäten in Form von Korrektur- und Verlängerungsosteotomie. Nur ausgeprägte Beindeformitäten sollten korrigiert werden. Die regelmäßig auftretende flexible Kyphose wird in der Regel konservativ behandelt. Eine operative Versorgung der Wirbelsäule erfolgt bei spinaler Stenose. Die Ergebnisse der chirurgischen Therapie sind sehr gut. Insbesondere bei Knochenverlängerungen muss jedoch über häufig auftretende Komplikationen aufgeklärt werden. Neue medikamentöse Behandlungsmethoden zur Wachstumsbeeinflussung befinden sich in der Entwicklung.

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Disease-specific complications and multidisciplinary interventions in achondroplasia

Cited by 9 publications

References 51 publications

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

How do we Treat Aberrant Excessive Signaling in FGF3 Receptor Pathway to Cure Achondroplasia in Childhood?

Operative Versorgung der Extremitäten und der Wirbelsäule bei Achondroplasie

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