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Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Abnormalities, Multiple; Dysostoses; Female; Humans; Male; Syndrome
PubMed: 11462363
DOI: No ID Found -
World Neurosurgery 2014Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia, and frequently mental retardation. Only two adult cases of acrodysostosis... (Review)
Review
BACKGROUND
Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia, and frequently mental retardation. Only two adult cases of acrodysostosis have been reported to have neurological symptoms.
CASE DESCRIPTION
We report one additional adult case that presented with signs of spinal cord compression from spinal stenosis, and make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. The patient had a T3 to T5 laminectomy and experienced a complete recovery.
CONCLUSIONS
Special attention should be given to these patients to detect signs of spinal stenosis, as early decompression can lead to neurological recovery.
Topics: Decompression, Surgical; Dysostoses; Female; Humans; Intellectual Disability; Laminectomy; Neurologic Examination; Neurosurgical Procedures; Osteochondrodysplasias; Recovery of Function; Spinal Canal; Spinal Cord Compression; Spinal Diseases; Spinal Stenosis; Treatment Outcome; Young Adult
PubMed: 23548849
DOI: 10.1016/j.wneu.2013.03.071 -
Clinics in Plastic Surgery Jan 1987Although great diversity marks the craniosynostoses, our experience related to that from other centers allows us to draw certain conclusions for their management. For...
Although great diversity marks the craniosynostoses, our experience related to that from other centers allows us to draw certain conclusions for their management. For the asymmetric synostoses, operative intervention should be carried out in infancy or early childhood. Although the unilateral approach is our preferred method, the bilateral approach can yield equally satisfactory results. Surgeons should, therefore, familiarize themselves with both methods and individualize for the given deformity. Mild symmetric (upper face) synostoses are best managed in infancy or early childhood, utilizing bilateral orbital advancement with the expectation that the need for additional major surgery will be at worst 50 per cent and likely significantly less. For moderate to severe synostoses, delaying major intervention to later childhood or adolescence maximizes the chance of obtaining a satisfactory result by a single procedure, either an extended LeFort III or monoblock advancement. Individualization of each case is essential, and the need for brain and eye protection or the psychologic needs of the patient may dictate a modification of the treatment guidelines. Patients and parents must be aware that growth and development subsequent to surgery is not entirely predictable, and there may be a need for a second major intervention at a subsequent time, despite these established guidelines.
Topics: Acrocephalosyndactylia; Adolescent; Child, Preschool; Craniofacial Dysostosis; Female; Humans; Infant; Male; Surgery, Plastic; Synostosis; Time Factors
PubMed: 3816039
DOI: No ID Found -
The British Journal of Ophthalmology Mar 1953
Topics: Dysostoses; Facial Bones
PubMed: 13032374
DOI: 10.1136/bjo.37.3.171 -
Best Practice & Research. Clinical... Mar 2015Distinctive facial features, hepatosplenomegaly or cardiomyopathy with or without associated skeletal dysplasia are clinical manifestations that may be suggestive of an... (Review)
Review
Distinctive facial features, hepatosplenomegaly or cardiomyopathy with or without associated skeletal dysplasia are clinical manifestations that may be suggestive of an underlying lysosomal storage disorder (LSD), However, these features may not be evident in certain subtypes associated primarily with central nervous system involvement. Age at onset can be broad, ranging from infancy to adulthood. Diagnosis may be delayed, as manifestations may be slow to evolve (taking months to years), particularly in those with later (adult-)onset, and in isolated cases (i.e., those without a prior family history). Diagnosis of individual subtypes can be confirmed using a combination of biochemical and molecular assays. In a few LSDs, treatment with hematopoietic stem cell transplantation, enzyme replacement or substrate reduction therapy is available. Symptomatic and palliative measure may enhance quality of life for both treatable and currently untreatable cases. Genetic counseling is important, so patients and their families can be informed of reproductive risks, disease prognosis and therapeutic options. Investigations of underlying disease mechanisms are enhancing knowledge about rare diseases, but also other more common medical conditions, on account of potential convergent disease pathways.
Topics: Cardiomyopathies; Dysostoses; Enzyme Replacement Therapy; Genetic Counseling; Genetic Therapy; Hematopoietic Stem Cell Transplantation; Hepatomegaly; Humans; Lysosomal Storage Diseases; Physical Therapy Modalities; Renal Insufficiency; Splenomegaly
PubMed: 25987171
DOI: 10.1016/j.beem.2014.08.005 -
Clinical Genetics Dec 2001The segmented or metameric aspect is a basic characteristic of many animal species ranging from invertebrates to man. Body segmentation usually corresponds to a... (Review)
Review
The segmented or metameric aspect is a basic characteristic of many animal species ranging from invertebrates to man. Body segmentation usually corresponds to a repetition, along the anteroposterior (AP) axis, of similar structures consisting of derivatives from the three embryonic germ layers. In humans, segmentation is most obvious at the level of the vertebral column and its associated muscles, and also in the peripheral nervous system (PNS). Functionally, segmentation is critical to ensure the movements of a rod-like structure, such as the vertebral column. The segmented distribution of the vertebrae derives from the earlier metameric pattern of the embryonic somites. Recent evidence from work performed in fish, chick and mouse embryos indicates that segmentation of the embryonic body relies on a molecular oscillator called the segmentation clock, which requires Notch signaling for its proper functioning. In humans, mutations in genes required for oscillation, such as Delta-like 3 (DLL3), result in abnormal segmentation of the vertebral column, as found in spondylocostal dysostosis syndrome, suggesting that the segmentation clock also acts during human embryonic development.
Topics: Animals; Biological Clocks; Body Patterning; Chick Embryo; Dysostoses; Gene Expression Regulation, Developmental; Genetic Diseases, Inborn; Humans; Membrane Proteins; Mice; Models, Biological; Receptors, Notch; Signal Transduction; Somites; Spine
PubMed: 11846732
DOI: 10.1034/j.1399-0004.2001.600602.x -
Clinical Dysmorphology Oct 2000We report a third patient, a female, with thoraco-pelvic dysostosis. This rare disorder is similar in phenotypic and radiographic appearances to thoraco-laryngo-pelvic...
We report a third patient, a female, with thoraco-pelvic dysostosis. This rare disorder is similar in phenotypic and radiographic appearances to thoraco-laryngo-pelvic dysplasia (Barnes syndrome). The only major difference between these two diseases is absence of laryngeal involvement in thoraco-pelvic dysplasia. They may represent two different entities or a contiguous gene syndrome.
Topics: Adolescent; Dysostoses; Female; Humans; Pelvis; Radiography; Thorax
PubMed: 11045587
DOI: 10.1097/00019605-200009040-00011 -
Genes Dec 2023Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb... (Review)
Review
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient's lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient's benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures.
Topics: Child; Humans; Young Adult; Adult; Mandibulofacial Dysostosis; Cleft Palate; Micrognathism; Syndrome; RNA Splicing Factors
PubMed: 38254920
DOI: 10.3390/genes15010029 -
Plastic and Reconstructive Surgery Sep 1971
Topics: Adult; Child, Preschool; Craniofacial Dysostosis; Female; Humans; Male; Osteotomy; Skull
PubMed: 5566471
DOI: 10.1097/00006534-197109000-00005 -
Endocrine Jun 2021Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein... (Review)
Review
Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first description, different studies unveiled, beside the molecular basis for PHP, the existence of different subtypes and of diseases in differential diagnosis associated with genetic alterations in other genes of the PTH/PTHrP pathway. The clinical and molecular overlap among PHP subtypes and with different but related disorders make both differential diagnosis and genetic counseling challenging. Recently, a proposal to group all these conditions under the novel term "inactivating PTH/PTHrP signaling disorders (iPPSD)" was promoted and, soon afterwards, the first international consensus statement on the diagnosis and management of these disorders has been published. This review will focus on the major and minor features characterizing PHP/iPPSDs as a group and on the specificities as well as the overlap associated with the most frequent subtypes.
Topics: Bone Diseases, Metabolic; Dysostoses; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 33179219
DOI: 10.1007/s12020-020-02533-9