Brachyturricephaly: Difference between revisions
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{{Infobox medical condition | |||
| name = Brachyturricephaly | |||
| image = [[File:Lewin_Acrocephaly_2.jpg|250px]] | |||
| caption = Illustration of Brachyturricephaly | |||
| field = [[Medical genetics]] | |||
| synonyms = [[Acrobrachycephaly]], [[Turri-brachycephaly]] | |||
| symptoms = [[Abnormally shaped head]], [[Craniosynostosis]] | |||
| complications = [[Increased intracranial pressure]], [[Developmental delay]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]], [[Syndromic craniosynostosis]] | |||
| risks = [[Family history]], [[Genetic syndromes]] | |||
| diagnosis = [[Physical examination]], [[Imaging studies]] | |||
| differential = [[Plagiocephaly]], [[Scaphocephaly]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Surgical intervention]], [[Cranial remodeling]] | |||
| prognosis = [[Varies depending on severity and treatment]] | |||
| frequency = [[Rare]] | |||
}} | |||
{{Short description|A congenital condition characterized by a short and broad skull}} | {{Short description|A congenital condition characterized by a short and broad skull}} | ||
[[File:Salterain_2.jpg|Brachyturricephaly|thumb|left]] | |||
[[File: | |||
'''Brachyturricephaly''' is a congenital condition characterized by a short and broad skull. It is a type of [[craniosynostosis]], a condition where one or more of the [[cranial sutures]] close prematurely, affecting the shape of the skull and potentially impacting [[brain]] development. | '''Brachyturricephaly''' is a congenital condition characterized by a short and broad skull. It is a type of [[craniosynostosis]], a condition where one or more of the [[cranial sutures]] close prematurely, affecting the shape of the skull and potentially impacting [[brain]] development. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Brachyturricephaly results from the premature fusion of the [[coronal suture]], which runs from ear to ear over the top of the skull. This early fusion restricts the growth of the skull in the anterior-posterior direction, leading to a compensatory growth in the vertical and lateral dimensions. The result is a skull that is short from front to back but tall and wide. | Brachyturricephaly results from the premature fusion of the [[coronal suture]], which runs from ear to ear over the top of the skull. This early fusion restricts the growth of the skull in the anterior-posterior direction, leading to a compensatory growth in the vertical and lateral dimensions. The result is a skull that is short from front to back but tall and wide. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with brachyturricephaly often present with a high, tower-like skull. The condition may be associated with other craniofacial abnormalities, such as [[hypertelorism]] (increased distance between the eyes), [[midface hypoplasia]], and [[proptosis]] (protrusion of the eyes). In some cases, brachyturricephaly can lead to increased [[intracranial pressure]], which may cause [[headaches]], [[visual disturbances]], and developmental delays. | Individuals with brachyturricephaly often present with a high, tower-like skull. The condition may be associated with other craniofacial abnormalities, such as [[hypertelorism]] (increased distance between the eyes), [[midface hypoplasia]], and [[proptosis]] (protrusion of the eyes). In some cases, brachyturricephaly can lead to increased [[intracranial pressure]], which may cause [[headaches]], [[visual disturbances]], and developmental delays. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of brachyturricephaly is typically made through clinical examination and imaging studies. [[Computed tomography]] (CT) scans are often used to assess the extent of suture fusion and to plan surgical intervention if necessary. [[Magnetic resonance imaging]] (MRI) may also be used to evaluate the brain and surrounding structures. | Diagnosis of brachyturricephaly is typically made through clinical examination and imaging studies. [[Computed tomography]] (CT) scans are often used to assess the extent of suture fusion and to plan surgical intervention if necessary. [[Magnetic resonance imaging]] (MRI) may also be used to evaluate the brain and surrounding structures. | ||
==Treatment== | ==Treatment== | ||
The primary treatment for brachyturricephaly is surgical intervention. The goal of surgery is to correct the shape of the skull, relieve any increased intracranial pressure, and allow for normal brain growth. Surgical techniques may include [[cranial vault remodeling]] and [[fronto-orbital advancement]]. The timing of surgery is crucial and is often performed in infancy or early childhood to optimize outcomes. | The primary treatment for brachyturricephaly is surgical intervention. The goal of surgery is to correct the shape of the skull, relieve any increased intracranial pressure, and allow for normal brain growth. Surgical techniques may include [[cranial vault remodeling]] and [[fronto-orbital advancement]]. The timing of surgery is crucial and is often performed in infancy or early childhood to optimize outcomes. | ||
==Prognosis== | ==Prognosis== | ||
With timely and appropriate surgical intervention, many individuals with brachyturricephaly can achieve normal brain development and lead healthy lives. However, the prognosis can vary depending on the presence of associated syndromes or additional craniofacial anomalies. | With timely and appropriate surgical intervention, many individuals with brachyturricephaly can achieve normal brain development and lead healthy lives. However, the prognosis can vary depending on the presence of associated syndromes or additional craniofacial anomalies. | ||
==See also== | |||
== | |||
* [[Craniosynostosis]] | * [[Craniosynostosis]] | ||
* [[Cranial sutures]] | * [[Cranial sutures]] | ||
* [[Hypertelorism]] | * [[Hypertelorism]] | ||
* [[Proptosis]] | * [[Proptosis]] | ||
[[Category:Craniofacial disorders]] | [[Category:Craniofacial disorders]] | ||
Latest revision as of 22:53, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Brachyturricephaly | |
|---|---|
| |
| Synonyms | Acrobrachycephaly, Turri-brachycephaly |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Abnormally shaped head, Craniosynostosis |
| Complications | Increased intracranial pressure, Developmental delay |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, Syndromic craniosynostosis |
| Risks | Family history, Genetic syndromes |
| Diagnosis | Physical examination, Imaging studies |
| Differential diagnosis | Plagiocephaly, Scaphocephaly |
| Prevention | Genetic counseling |
| Treatment | Surgical intervention, Cranial remodeling |
| Medication | N/A |
| Prognosis | Varies depending on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
A congenital condition characterized by a short and broad skull
Brachyturricephaly is a congenital condition characterized by a short and broad skull. It is a type of craniosynostosis, a condition where one or more of the cranial sutures close prematurely, affecting the shape of the skull and potentially impacting brain development.
Pathophysiology[edit]
Brachyturricephaly results from the premature fusion of the coronal suture, which runs from ear to ear over the top of the skull. This early fusion restricts the growth of the skull in the anterior-posterior direction, leading to a compensatory growth in the vertical and lateral dimensions. The result is a skull that is short from front to back but tall and wide.
Clinical Features[edit]
Individuals with brachyturricephaly often present with a high, tower-like skull. The condition may be associated with other craniofacial abnormalities, such as hypertelorism (increased distance between the eyes), midface hypoplasia, and proptosis (protrusion of the eyes). In some cases, brachyturricephaly can lead to increased intracranial pressure, which may cause headaches, visual disturbances, and developmental delays.
Diagnosis[edit]
Diagnosis of brachyturricephaly is typically made through clinical examination and imaging studies. Computed tomography (CT) scans are often used to assess the extent of suture fusion and to plan surgical intervention if necessary. Magnetic resonance imaging (MRI) may also be used to evaluate the brain and surrounding structures.
Treatment[edit]
The primary treatment for brachyturricephaly is surgical intervention. The goal of surgery is to correct the shape of the skull, relieve any increased intracranial pressure, and allow for normal brain growth. Surgical techniques may include cranial vault remodeling and fronto-orbital advancement. The timing of surgery is crucial and is often performed in infancy or early childhood to optimize outcomes.
Prognosis[edit]
With timely and appropriate surgical intervention, many individuals with brachyturricephaly can achieve normal brain development and lead healthy lives. However, the prognosis can vary depending on the presence of associated syndromes or additional craniofacial anomalies.
