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Related Concept Videos

Sutures of the Skull01:22

Sutures of the Skull

The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone Formation by Intramembranous Ossification01:29

Bone Formation by Intramembranous Ossification

Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Spongy Bone01:09

Spongy Bone

All bones comprise an outer layer of compact bone, and an interior made up of spongy bone tissue, also called cancellous or trabecular bone. In long bones, spongy bone tissue is mainly found in the interior of the epiphyses (broad ends of the bone).
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Bone Formation by Endochondral Ossification01:24

Bone Formation by Endochondral Ossification

Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...

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Cranio-osteoarthropathy in sibs.

Tabib Dabir1, A M Sills, Christine M Hall

  • 1Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London Department of Paediatrics, Huddersfield Royal Infirmary, Lindley, Huddersfield, UK Yorkshire Regional Genetics Service, St James's University Hospital, Leeds Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.

Clinical Dysmorphology
|June 7, 2007
PubMed
Summary

Cranio-osteoarthropathy, a form of primary hypertrophic osteoarthropathy, presents with unique skeletal features. This study suggests autosomal recessive inheritance for cranio-osteoarthropathy, supported by family data and prior cases.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Skeletal Dysplasias

Background:

  • Primary hypertrophic osteoarthropathy (PHO) is a rare disorder characterized by digital clubbing, arthropathy, and bone overgrowth.
  • PHO exhibits genetic heterogeneity with known autosomal dominant and recessive forms.
  • Cranio-osteoarthropathy (COO) is a variant of PHO featuring decreased neurocranium ossification.

Observation:

  • Two siblings with cranio-osteoarthropathy were studied.
  • Phenotypic variability was observed within the described cases.
  • Consanguinity was present in the family.

Findings:

  • The study supports autosomal recessive inheritance for cranio-osteoarthropathy.
  • Analysis of consanguinity and previously reported cases strengthens the evidence for recessive inheritance.
  • The findings highlight the phenotypic spectrum of cranio-osteoarthropathy.

Implications:

  • Understanding the inheritance pattern of COO is crucial for genetic counseling.
  • Further research into the genetic basis of COO may reveal novel disease mechanisms.
  • Accurate diagnosis and genetic understanding aid in managing patients with PHO variants.