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Journal of Oral Medicine Jan 1966
Topics: Abnormalities, Multiple; Adolescent; Child; Craniofacial Dysostosis; Female; Humans; Intellectual Disability; Male; Mandibulofacial Dysostosis; Pierre Robin Syndrome; Rubinstein-Taybi Syndrome
PubMed: 5294074
DOI: No ID Found -
American Journal of Medical Genetics.... Jul 2021Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare...
Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia.
Topics: Adenoidectomy; Adolescent; Adult; Child; Child, Preschool; Continuous Positive Airway Pressure; Dysostoses; Female; Humans; Infant; Intellectual Disability; Male; Osteochondrodysplasias; Polysomnography; Ribs; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Spine; Tonsillectomy; Treatment Outcome; Young Adult
PubMed: 33908178
DOI: 10.1002/ajmg.a.62236 -
The Cleft Palate Journal Jul 1982Six patients with midface retrusion secondary to craniofacial dysostoses were evaluated by computer assisted tomography (CT) before and after surgery. Computer...
Six patients with midface retrusion secondary to craniofacial dysostoses were evaluated by computer assisted tomography (CT) before and after surgery. Computer reformated life-size images were generated for linear measurements and for assessing the encroachment upon the orbit of the anterior and middle cranial fossae, the lateral displacement of the ethmoids, and the retrusion of the maxilla. Dynamic ocular CT demonstrated alterations in the angle of divergence of the optic nerve with globe movement which made measurements of that angle an unreliable assessment of hypertelorism. Surgical separation of the midface from the base of the skull was shown to be a fracture within the palatine bones between its horizontal and pyramidal processes. The integrity of the antral walls was preserved in all patients, in contrast to the comminution seen with traumatic LeFort III fractures. CT evaluation of patients with midface retrusion has further defined the nature of their anomalies, facilitated operative planning, demonstrated the osteotomies in vivo and reduced radiation exposure.
Topics: Adolescent; Child; Child, Preschool; Craniofacial Dysostosis; Female; Humans; Male; Orbit; Skull; Tomography, X-Ray Computed
PubMed: 6956464
DOI: No ID Found -
The Journal of the Association of... Oct 1990
Topics: Adolescent; Age Factors; Dysostoses; Humans; Male; Mucopolysaccharidoses; Radiography
PubMed: 2128085
DOI: No ID Found -
The Journal of Pediatrics Dec 1960
Topics: Dysostoses; Humans; Medical Records; Osteochondrodysplasias
PubMed: 13719292
DOI: 10.1016/s0022-3476(60)80135-7 -
The American Journal of Roentgenology,... Sep 1960
Topics: Disease; Dysostoses; Enchondromatosis; Extremities; Humans; Intellectual Disability; Medical Records; Osteochondrodysplasias
PubMed: 14447114
DOI: No ID Found -
Human Molecular Genetics Oct 2017Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by...
Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene. Several arguments suggest that the mutations should result in inappropriately increased PDE4D activity, however, no direct evidence supporting this hypothesis has been presented, and the functional consequences of the mutations remain unclear. We evaluated the impact of four different PDE4D mutations causing ACRDYS2 located in different functional domains on the activity of PDE4D3 expressed in Chinese hamster ovary cells. Three independent approaches were used: the direct measurement of PDE activity in cell lysates, the evaluation of intracellular cAMP levels using an EPAC-based (exchange factor directly activated by cAMP) bioluminescence resonance energy transfer sensor , and the assessment of PDE4D3 activation based on electrophoretic mobility. Our findings indicate that PDE4D3s carrying the ACRDYS2 mutations are more easily activated by protein kinase A-induced phosphorylation than WT PDE4D3. This occurs over a wide range of intracellular cAMP concentrations, including basal conditions, and result in increased hydrolytic activity. Our results provide new information concerning the mechanism whereby the mutations identified in the ACRDYS2 dysregulate PDE4D activity, and give insights into rare diseases involving the cAMP signaling pathway. These findings may offer new perspectives into the selection of specific PDE inhibitors and possible therapeutic intervention for these patients.
Topics: Adult; Animals; CHO Cells; Cricetulus; Cyclic AMP; Cyclic AMP-Dependent Protein Kinases; Cyclic Nucleotide Phosphodiesterases, Type 4; Dysostoses; Enzyme Activation; Female; Humans; Intellectual Disability; Mutation; Osteochondrodysplasias; Phosphorylation; Signal Transduction
PubMed: 29016851
DOI: 10.1093/hmg/ddx271 -
RoFo : Fortschritte Auf Dem Gebiete Der... Nov 2023
Topics: Humans; Craniofacial Dysostosis; Dysostoses
PubMed: 37348532
DOI: 10.1055/a-2088-9633 -
Zhonghua Minguo Xiao Er Ke Yi Xue Hui... 1996To evaluate the radiological features of mucopolysaccharidoses (MPS), 15 cases were collected for review in this hospital, retrospectively (1985-1995). Eight cases of...
To evaluate the radiological features of mucopolysaccharidoses (MPS), 15 cases were collected for review in this hospital, retrospectively (1985-1995). Eight cases of Hurler syndrome, two cases of Hunter syndrome, two cases of Sanfilippo syndrome and three cases of Morquio syndrome were classified. Varying severity of dysostosis multiplex is the general bony manifestation of MPS, but special appearance may occur in particular types. Hurler syndrome is the prototype of MPS. The main findings were as follows: "J" shaped sella turcica, paddle-like ribs, anterior inferior beaking (hook-like) of lower thoracic-upper lumbar hypoplastic vertebral bodies, flared iliac wings, constrictive iliac bodies, diaphyseal expansion of long bones, distal ulna and radius tilt toward each other, bullet-like proximal phalanges and central pointing of proximal metacarpals. Hunter and Sanfilippo syndromes had the appearance of moderate to mild dysostosis multiplex. Morquio syndrome had distinctive bony changes as vertebral plana and tongue-like protrusion in the anterior part of the lower thoracic-upper lumbar vertebral bodies, particularly short of the distal deformed ulna and poor ossification of the proximal lateral tibial epiphyses. Although clinical presentations and the hallmarks of bony changes helped possible classification of MPS, definite diagnosis depends on enzyme analysis.
Topics: Bone and Bones; Child; Child, Preschool; Dysostoses; Female; Humans; Infant; Male; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis III; Radiography; Retrospective Studies
PubMed: 8755171
DOI: No ID Found -
American Journal of Medical Genetics Oct 1994
Review
Topics: Bone Diseases, Developmental; Craniofacial Dysostosis; Craniosynostoses; Dysostoses; Facial Bones; Female; Frontal Bone; Humans; Infant; Nose; Poland Syndrome
PubMed: 7747768
DOI: 10.1002/ajmg.1320520422