Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.

Background: Recently, tracheal narrowing has been recognized as a significant comorbid condition in patients with Morquio A, also known as mucopolysaccharidosis IVA. We studied a large cohort of patients with Morquio A to describe the extent of their tracheal narrowing and its relationship to airway management during anesthesia care.

Methods: This is an observational study, collecting data retrospectively, of a cohort of patients with Morquio A.

Walking status and spinopelvic parameters in young children with achondroplasia: 10-year follow-up.

Purpose: Thoracolumbar kyphosis (TLK) is common in children with achondroplasia and resolves in 90% by 10 years of age. Our purpose was to describe the natural progression of TLK in a cohort of pre-walking children with achondroplasia.

Methods: A single-center, retrospective review identified 62 children (32 male, 30 female) with achondroplasia.

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Collagen X marker (CXM) is a degradation fragment of collagen type X. It is a real-time biomarker of height velocity with established norms. Plasma C-type natriuretic peptide (CNP) and NTproCNP levels have also been found to correlate with growth velocity in the general population and are elevated in individuals with achondroplasia compared with age- and sex-matched controls.

Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.

Background: Mucopolysaccharidosis type IVA (MPS IVA) is characterized by progressive skeletal dysplasia and respiratory issues with difficult airway management during anesthesia.

Objective: To characterize tracheal abnormalities in children and adults with MPS IVA including interplay of the trachea, vasculature, bones and thyroid at the thoracic inlet.

Materials And Methods: Computed tomography (CT) angiograms of the chest were analyzed for trachea shape, narrowing and deviation at the thoracic inlet, course of vasculature, bone alignment and thyroid location.

The Management of Kyphosis in Metatropic Dysplasia.

Design: Retrospective review.

Objective: To describe the presentation and progression, and compare treatments of severe thoracic kyphosis in a cohort of patients with metatropic dysplasia.

Summary Of Background Data: Metatropic dysplasia is a rare skeletal dysplasia characterized by several abnormalities, including severe platyspondyly and vertebral wedging.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Purpose: We sought to examine the prevalence of depression and anxiety in adults with skeletal dysplasias, and to assess any correlations with pain.

Methods: Participation was via an anonymous REDCap survey, which consisted of sociodemographic questions followed by the brief pain inventory-short form (BPI-SF), patient health questionnaire-8 (PHQ-8), and generalized anxiety disorder-7 (GAD-7) questionnaires. These assessed pain, depression, and anxiety respectively.

Sagittal Spinopelvic Parameters in Children With Achondroplasia.

Study Design: Retrospective cross-sectional, longitudinal radiographic analysis.

Objective: To report the natural history of spinopelvic parameters in achondroplasia.

Summary Of Background Data: Sagittal spinal deformity is common in children with achondroplasia.

Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.

Background: Metatropic dysplasia is a rare form of skeletal dysplasia requiring multiple anesthetics for surgical and imaging procedures, most of which are orthopedic procedures. We provide centralized care to patients with skeletal dysplasia at our tertiary care pediatric hospital, and we were able to collect the largest number of metatropic dysplasia patients reported to date.

Aim: The aim of this retrospective study was to describe and characterize the anesthetic difficulties in this high-risk population.

Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis.

Purpose: Recent work has shown the safety and efficacy of halo-gravity traction as an operative adjunct. However, there are no reports specifically looking at halo-gravity traction in patients with skeletal dysplasia. Our purpose was to assess the safety and efficacy of traction in children with skeletal dysplasia who present with severe kyphoscoliosis.

Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia.

Background: The aim of this study was to describe the dynamic lower extremity alignment in children with diastrophic dysplasia (DD) by 3-dimensional gait analyses. Our main hypothesis was that gait kinematics and kinetics are different than the age-normalized population and patellar dislocation can alter the gait in patients with DD.

Methods: A retrospective review of clinical data and radiographs was conducted for patients with DD who had gait analysis before lower extremity skeletal surgery excluding foot procedures.

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

Context: C-type natriuretic peptide (CNP) is a crucial regulator of endochondral bone growth. In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function of the CNP receptor (natriuretic peptide receptor-B [NPR-B]), plasma levels of CNP were elevated. In vitro studies have shown that activation of the MAPK kinase (MEK)/ERK MAPK pathway causes functional inhibition of NPR-B.

Occipitocervical fusion in skeletal dysplasia: a new surgical technique.

Study Design: Retrospective cohort study.

Objective: This study describes clinical and radiological results of a new cable technique for occipitocervical fusion (OCF) in children with skeletal dysplasia (SD).

Summary Of Background Data: Anatomical variability and poor bone quality make upper cervical surgery technically challenging in patients with SD.

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

Introduction: Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment.

Growth-sparing spinal instrumentation in skeletal dysplasia.

Study Design: Retrospective case series.

Objective: To report the outcomes of distraction-based, growth-sparing spinal instrumentation in patients with skeletal dysplasia.

Summary Of Background Data: Patients with skeletal dysplasia with spinal deformity often undergo early fusion, further compromising an already small chest.

Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?

Background: Skeletal dysplasias may be associated with cervical spinal instability or stenosis. Cervical spine flexion-extension plain radiographs in children with skeletal dysplasia are difficult to interpret. The purpose of this study was to review the indications, efficacy, and safety of performing flexion-extension magnetic resonance imaging (MRI) under sedation/anesthesia in these children.

Anesthetic care and perioperative complications of children with Morquio syndrome.

Objectives: Our objective was to make recommendations based on our experience and findings from this study regarding the anesthetic care of children with Morquio syndrome (MS). We emphasize information not readily available in the Anesthesiology literature.

Aim: To describe the unique nature of difficulties, especially the relationship of the head and neck to airway patency.

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys.

Skeletal dysplasias: evaluation with impulse oscillometry and thoracoabdominal motion analysis.

Background: Children with skeletal dysplasia (SD) often have pulmonary disease, which can be life threatening. In clinical practice, chest wall and formal respiratory function tests are difficult to perform owing to the small size and cooperation. The objective of this study was to demonstrate distinct thoracopulmonary function patterns in children with SD.