Presentation
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Through our online ordering and statement reporting system, Nucleus, the customer has an access to details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with inadequate coverage if present [blueprintgenetics.com]
Entire Body System
- Tall Stature
It is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. [blueprintgenetics.com]
- Short Stature
It is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. [blueprintgenetics.com]
Musculoskeletal
- Osteoporosis
524 (3) 527 (3) 122 Singleton-Merten Syndrome 530 (3) 123 Geroderma Osteodysplasticum 533 (3) 124 Weismann-Netter Toxopachyosteosis 536 (3) 125 Calvarial Doughnut Lesions-Osteoporosis Syndrome 539 (2) 126 Cole-Carpenter Dysplasia 541 (3) 127 Spondyloocular [kriso.ee]
Juvenile Idiopathic Osteoporosis ; 121. Bruck Syndrome ; 122. Singleton-Merten Syndrome ; 123. Geroderma osteodysplasticum ; 124. Weismann-Netter Toxopachyosteosis ; 125. Calvarial doughnut lesions with bone fragility ; 126. [bookdepository.com]
Juvenile Idiopathic Osteoporosis 121. Bruck Syndrome 122. Singleton-Merten Syndrome 123. Geroderma osteodysplasticum 124. Weismann-Netter Toxopachyosteosis 125. Calvarial doughnut lesions with bone fragility 126. Cole-Carpenter Dysplasia 127. [amazon.cn]
[…] osteochondromatosis, osteochondroplastica, osteoclastic, osteodysplasia, osteodysplastic, osteodysplastica, osteodystrophy, osteogenesis, osteogenic, osteoglophonic, osteolysis, osteomyelitis, osteopaenia, osteopathia, osteopenia, osteopetrosis, osteopoikilosis, osteoporosis [rapsodyonline.eurordis.org]
- Platyspondyly
Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly [blueprintgenetics.com]
[…] pigmentovascularis, pilaris, pili, pilotto, pinheiro, pinnae, pitt-hopkins, pituitary, pityriasis, piussan-lenaerts-mathieu, placidi, placoid, plagiocephaly, plague, plana, plantaris, planus, plasmacytoma, plasmalogenes, plasminogen, platelet, platyspondylic, platyspondyly [rapsodyonline.eurordis.org]
- Genu Valgum
Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses, widening of the ribs and clavicles, platyspondyly [blueprintgenetics.com]
Treatment
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Vitamin D, calcium or a combination of vitamin D and calcium for the treatment of nutritional rickets in children. Cochrane Database Syst Rev. 2020;4(4):CD012581. Pfeiffer KM, Brod M, Smith A, Gianettoni J, Viuff D, Ota S y cols. [revistapediatria.org]
J Pediat 112: 587-590, 1988 (35) Key LL et al: Treatment of craniometaphyseal dysplasia with calcitriol. J Pediatr 112:583-586, 1988 (36) Lyndon Key L Jr et al. Treatment of craniometaphyseal dysplasia with calcitriol. [syndromefinder.ncchd.go.jp]
[…] tracheoesophageal, tract, trainer, trait, transaminase, transcobalamin, transfer, transferase, transfusion, transgrediens, transient, translocase, transpeptidase, transplant, transplantation, transport, transporter, transposition, transverse, trauma, traumatic, treatment [rapsodyonline.eurordis.org]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]