Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias

This chapter further discusses bone dysplasias and explores achondrogenesis type 1A, odontochondrodysplasia, Schneckenbecken dysplasia, opsismodysplasia, spondylometaphyseal dysplasia (Sedaghatian type), spondyloenchondrodysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen dysplasia, spondylometaepiphyseal dysplasia (short limb-abnormal calcification type), spondylometaphyseal dysplasia with cone-rod dystrophy, dyssegmental dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal dysplasia tarda (X-linked), aggrecan-associated skeletal dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous dysplasia, progressive pseudorheumatoid chondrodysplasia, spondylometaphyseal dysplasia (corner fracture type), sponastrime dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0008 ◽

2018 ◽

pp. 245-306

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Clinical Findings ◽

Joint Laxity ◽

Diastrophic Dysplasia ◽

Desbuquois Dysplasia ◽

Recessive Type ◽

Joint Dislocations ◽

Bone Dysplasias ◽

Epiphyseal Dysplasia ◽

Spondyloepimetaphyseal Dysplasia

This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0006 ◽

2018 ◽

pp. 135-156

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Radiographic Features ◽

Skeletal Dysplasias ◽

Spondyloepiphyseal Dysplasia ◽

Spondylometaphyseal Dysplasia ◽

Metatropic Dysplasia

This chapter discusses metatropic dysplasia and other TRPV4-related skeletal dysplasias, including spondyloepiphyseal dysplasia (Maroteaux type), spondylometaphyseal dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Sulfate Transporter Group

Bone Dysplasias ◽

10.1093/med/9780195396089.003.0012 ◽

2012 ◽

pp. 47-57

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

Sheila Unger

Keyword(s):

Clinical Findings ◽

Differential Diagnoses ◽

Multiple Epiphyseal Dysplasia ◽

Type Ii ◽

Sulfate Transporter ◽

Diastrophic Dysplasia ◽

Radiographic Features ◽

Recessive Type ◽

Epiphyseal Dysplasia ◽

Achondrogenesis Type

Chapter 12 covers sulfate transporter group (achondrogenesis type 1B (MIM 600972) atelosteogenesis type II (MIM 256050), diastrophic dysplasia (MIM222600) multiple epiphyseal dysplasia, recessive type (RMED; MIM 226900), including major clinical findings, radiographic features, and differential diagnoses.

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Spondylometaphyseal Dysplasia, Sutcliffe/Corner Fracture Type (Mim 184255)

Bone Dysplasias ◽

10.1093/med/9780195396089.003.0036 ◽

2012 ◽

pp. 193-195

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

Sheila Unger

Keyword(s):

Clinical Findings ◽

Differential Diagnoses ◽

Fracture Type ◽

Radiographic Features ◽

Spondylometaphyseal Dysplasia

Chapter 36 covers spondylometaphyseal dysplasia, Sutcliffe/corner fracture type (MIM 184255), including major clinical findings, radiographic features, and differential diagnoses.

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Achondrogenesis

Pediatric and Developmental Pathology ◽

10.2350/07-01-0216.1 ◽

2007 ◽

Vol 10 (4) ◽

pp. 253-255 ◽

Cited By ~ 3

Author(s):

Raj P. Kapur

Keyword(s):

Cartilage Matrix ◽

Genotypic Differences ◽

Skeletal Dysplasias ◽

Type Ia ◽

Achondrogenesis Type ◽

Insight Into ◽

Developmental Pathology

In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA [ 1 ]. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.

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Polytopic Dysostoses

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0020 ◽

2018 ◽

pp. 757-794

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Clinical Findings ◽

Differential Diagnoses ◽

Cleidocranial Dysplasia ◽

Campomelic Dysplasia ◽

Radiographic Features ◽

Metaphyseal Dysplasia ◽

Bone Dysplasias ◽

Nail Patella Syndrome ◽

Patellar Dysplasia

This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity ofLBR-bone dysplasias

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36808 ◽

2014 ◽

Vol 167 (1) ◽

pp. 159-163 ◽

Cited By ~ 7

Author(s):

Nara Sobreira ◽

Peggy Modaff ◽

Gary Steel ◽

Jing You ◽

Sonia Nanda ◽

...

Keyword(s):

Gene Mutations ◽

Phenotypic Heterogeneity ◽

Lamin B ◽

Lamin B Receptor ◽

Bone Dysplasias ◽

Spondylometaphyseal Dysplasia ◽

Definition Of

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Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Case Reports in Genetics ◽

10.1155/2011/421582 ◽

2011 ◽

Vol 2011 ◽

pp. 1-4 ◽

Cited By ~ 10

Author(s):

R. Curtis Rogers ◽

Bridgette Aufmuth ◽

Stephanie Monesson

Keyword(s):

Immune Deficiency ◽

Corpus Callosum ◽

Autosomal Recessive ◽

Clinical Laboratory ◽

Postnatal Growth ◽

Clinical Findings ◽

Brain Anomalies ◽

Severe Intellectual Disability ◽

Cytoplasmic Vacuoles ◽

Male Sibling

Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome.Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstrated cytoplasmic vacuoles of the cardiomyocytes and confirmed the clinical findings.Results. The patients reported here include the 13th and 14th patients reported with Vici syndrome. The summary of findings present in these patients includes postnatal growth retardation, developmental delay, bilateral cataracts, agenesis of the corpus callosum, cerebellar anomalies, gyral abnormalities, seizures, hypotonia, and cardiomyopathy.Conclusion. Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.

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