Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
-
Kosei Hasegawa
,
Chikahiko Numakura
,
Miho Yamashita
Abstract
Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome. In the present study, we report and compare the highly varied clinical and radiological features of three Japanese AD/GD children. Our patients, harboring FBN1 mutations p.Tyr1699Cys, p.Ser1750Arg, and p.Gly1762Ser, shared common clinical symptoms such as severe short stature, acromelia and hepatomegaly. Short tubular bones of hands and deformities of femur heads are common radiological features of our patients.
Acknowledgments
We thank our patients for their voluntary participation in this study.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted article and approved submission. KH designed the study design, all authors collected clinical data from patients, KH and H. Tanaka drafted the article, and H. Tanaka and H. Tsukahara revised the article content.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Editorial
- Disorders of sex development
- Original Articles
- Fertility and sexual function: a gap in training in pediatric endocrinology
- Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre
- Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
- Sensitivity and specificity of different methods for cystic fibrosis-related diabetes screening: is the oral glucose tolerance test still the standard?
- Anti-hyperglycemic activity of Aegle marmelos (L.) corr. is partly mediated by increased insulin secretion, α-amylase inhibition, and retardation of glucose absorption
- Risk factors that affect metabolic health status in obese children
- Nocturnal levels of chemerin and progranulin in adolescents: influence of sex, body mass index, glucose metabolism and sleep
- Elevated endogenous secretory receptor for advanced glycation end products (esRAGE) levels are associated with circulating soluble RAGE levels in diabetic children
- Food exchange estimation by children with type 1 diabetes at summer camp
- Usefulness of non-fasting lipid parameters in children
- Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia
- Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
- An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
- Case Reports
- Hypogonadotropic hypogonadism in a female patient with congenital arhinia
- Transdermal testosterone gel for induction and continuation of puberty in adolescent boys with hepatic dysfunction
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
