Filamin-Associated Dysplasias/Dysostoses and Related Disorders

2018 ◽  
pp. 307-350
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Otopalatodigital Syndrome

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Filamin B Group

2012 ◽  
pp. 112-124
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Filamin B

Chapter 23 covers disorders of the Filamin B group (Boomerang dysplasia/atelosteogenesis type 1 (MIM 112310, 108720), atelosteogenesis type 2 (MIM 108721), Larsen syndrome, autosomal dominant (MIM 150250), spondylocarpotarsal synostosis syndrome (MIM 272460), including major clinical findings, radiographic features, and differential diagnoses.

Filamin A Group

2012 ◽  
pp. 93-111
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Type A ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Syndrome Type ◽  
Filamin A ◽  
Radiographic Features ◽  
Otopalatodigital Syndrome

Chapter 22 covers Type A filaminopathies and related disorders (otopalatodigital syndrome type 1 (MIM 311300), otopalatodigital syndrome type 2 (MIM304120), Melnick-Needles osteodysplasty (MIM 309350), frontometaphyseal dysplasia (MIM 305620), Frank-Ter Harr syndrome (MIM 249420)), including major clinical findings, radiographic features, and differential diagnoses.

Trichorhinophalangeal Syndrome, Type I (Mim 190350)

2012 ◽  
pp. 339-341
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Radiographic Features ◽  
Trichorhinophalangeal Syndrome ◽  
Trichorhinophalangeal Syndrome Type 1

Chapter 73 covers trichorhinophalangeal syndrome, Type 1 (MIM 190350), including major clinical findings, radiographic features, and differential diagnoses.

Kenny-Caffey syndrome (Mim 244460 [Type I]; 127000 [Type 2])

2012 ◽  
pp. 389-391
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Radiographic Features

Chapter 89 covers Kenny-Caffey syndrome (MIM 244460 [type 1], 127000 [type 2]), including major clinical findings, radiographic features, and differential diagnoses.

Trichorhinophalangeal Syndrome, Type II (Mim 150230)

2012 ◽  
pp. 342-343
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Syndrome Type ◽  
Type Ii ◽  
Radiographic Features ◽  
Trichorhinophalangeal Syndrome

Chapter 74 covers trichorhinophalangeal syndrome, Type 2 (MIM 150230), including major clinical findings, radiographic features, and differential diagnoses.

Acromesomelic and Acromelic Dysplasias/Dysostoses

2018 ◽  
pp. 443-496
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Albright Hereditary Osteodystrophy ◽  
Grebe Dysplasia ◽  
Myhre Syndrome ◽  
Acromicric Dysplasia

This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Punctate Calcification Group

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Chondrodysplasia Punctata ◽  
Limb Defects ◽  
Dominant Type ◽  
Radiographic Features ◽  
Keutel Syndrome ◽  
Punctate Calcification ◽  
Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Pachydermoperiostosis, Autosomal Dominant (Mim 167100)

2012 ◽  
pp. 473-476
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features

Chapter 109 covers pachydermoperiostosis, autosomal dominant (MIM 167100), including major clinical findings, radiographic features, and differential diagnoses.

Multiple Epiphyseal Dysplasias, Autosomal Dominant (MIM 132400, 600204, 600969, 607078)

2012 ◽  
pp. 58-63
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features

Chapter 13 covers multiple epiphyseal dysplasias of the autosomal dominant sort (MIM 132400, 600204, 600969, 607078), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Autoantibodies to 21-hydroxylase as a diagnostic marker of primary autoimmune adrenal insufficiency, including at its potential and latent stages

2020 ◽  
Vol 48 ◽  
Author(s):  
N. F. Nuralieva ◽  
M. Yu. Yukina ◽  
E. A. Troshina ◽  
N. M. Malysheva ◽  
L. V. Nikankina
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Immune Tolerance ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Autoimmune Polyendocrine Syndrome ◽  
Group 2

Rationale: In Russia, assessment of anti-P450c21 antibodies (AB) in the diagnosis of autoimmune adrenal insufficiency (AAI) has not been commonly used, and the disease screening has not been implemented.Aims: 1) To determine the sensitivity and specificity of anti-P450c21 AB determination in the AAI diagnosis; 2) To estimate the prevalence of anti-P450c21 AB carriage in patients without AAI.Materials and methods: Anti-P450c21 AB were assessed in 40 patients (group 1) with manifest AAI; 171 patients without established diagnosis of AAI, including 113 subjects with autoimmune thyroid disorders or type 1 diabetes mellitus (AID, group 2); 25 carriers of AB markers of thyroid AID and/or type 1 diabetes mellitus without any target organ dysfunctions (group 3); 33 patients with non-autoimmune endocrine disorders (group 4), and 25 healthy individuals (group 5).Results: Determination of anti-P450c21 AB for the diagnosis of AAI had 95% sensitivity, with specificity of 100%, predictive value of a positive result of 100%, and predictive value of a negative result 92.6%. Anti-P450c21 AB were inversely correlated with the duration of glucocorticoid replacement therapy (r = -0.222, p < 0.05). High levels of anti-P450c21 AB were found in 4 (3.5%) patients of group 2; based on the results of additional hormonal testing, 50% cases were diagnosed with the latent stage of the disease and 50% cases with the potential stage.Discussion: The sensitivity of the anti-P450c21 AB determination for AAI diagnosis in our study was higher, than in the works by other authors. We have confirmed a time-related reduction of anti-P450c21 AB levels, whereby the strength of the correlation was higher in the subgroups with autoimmune polyendocrine syndrome type II and, to a greater extent, autoimmune polyendocrine syndrome type I. This might be related to their different pathogenesis, with an abnormality of central immune tolerance in autoimmune polyendocrine syndrome type I and that of peripheral immune tolerance in autoimmune polyendocrine syndrome type II. According to our data, in 50% of cases, the development of AAI was preceded by the manifestation of other AIDs (in 15% of cases being multiple). Among all patients with no AAI diagnosis at the study entry, increased anti- P450c21 AB levels were found exactly in those with pre-existing AID. Thus, we have confirmed the feasibility of AAI screening primarily in a cohort of patients with other AID (especially multiple) belonging to the risk group.Conclusion: The determination of blood anti-P450c21 AB is a highly sensitive and highly specific method to diagnose AAI. The frequency of anti-P450c21 AB detection might depend on the duration of glucocorticoid treatment. Screening for early AAI stages is relevant primarily in the risk groups with multiple autoimmune disorders.

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