Presentation
The findings presented here suggest that type II collagen may function in human cardiogenesis. [ncbi.nlm.nih.gov]
Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. [encyclopedia.pub]
Workup
During the pregnancy, the woman was offered a complete workup including a cardiac, pneumological, orthopaedic and obstetric examinations every month from the 17th to the 32nd week. All parameters remained within the normal range. [ojrd.biomedcentral.com]
Treatment
Treatment[edit] There is no cure or treatment for hypochondrogenesis.[3] References[edit] ^ "Hypochondrogenesis: MedlinePlus Genetics". medlineplus.gov. Retrieved 9 September 2021. ^ "Hypochondrogenesis". Rare Disease InfoHub. Retrieved 16 June 2022. [en.wikipedia.org]
Treatment : How to Treat "hypochondrogenesis"? There is no known treatment for hypochondrogenesis. If the condition is detected during pregnancy, parents are given the option to terminate the pregnancy. [signssymptoms.org]
Hypochondrogenesis Treatment There is no known treatment for hypochondrogenesis. If the condition is detected during pregnancy, parents are given the option to terminate the pregnancy. [illnessopedia.org]
Prognosis
Hypophosphatasia and hypochondrogenesis, in particular, have a poor prognosis. Therefore, assessment of the prognosis is the key to successful management. We report two cases of hypophosphatasia and hypochondrogenesis detected by ultrasonography. [jstage.jst.go.jp]
Prognosis The prognosis for an infant with hypochondrogenesis is bleak. Some infants are stillborn, and those that are live born die shortly after birth due to respiratory failure. Survival can range from a few days to a few weeks. [encyclopedia.com]
The prognosis is generally poor, with most infants being stillborn or dying soon after birth. [radiopaedia.org]
Prognosis - Hypochondrogenesis Not supplied. Treatment - Hypochondrogenesis There is no cure or treatment for hypochondrogenesis. [checkorphan.org]
Prognosis ... Type of inheritance ... [ibis-birthdefects.org]
Etiology
Elsevier Health Sciences, ١٨/٠٨/٢٠١٣ - 979 من الصفحات Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.com]
Etiology ... Classification ... Clinical features ... Diagnosis and differential diagnosis ... Associated anomalies ... Prognosis ... Type of inheritance ... [ibis-birthdefects.org]
This observation further supports the conclusion that SPD and PLSD-T are not two etiologically distinct entities but belong to the same continuum phenotypic spectrum. [ojrd.biomedcentral.com]
Epidemiology
Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporosis Rep 2007;5:91-97. Van de Harten JJ, Brons JTJ, Dijkstra PE et al. [iame.com]
Pathophysiology
[…] hypochondrogenesis include: edema, limb undergrowth, spondyloepiphyseal dysplasia, short ribs, respiratory failure, short chin, upper limb undergrowth, thoracic hypoplasia, hypertelorism, hydrops fetalis, pulmonary hypoplasia, and a cleft palate.[2] Pathophysiology [en.wikipedia.org]
Pathophysiology A series of mutations in the DDST gene has been identified in patients with achondrogenesis type IB.5, 6 Homozygosity or compound heterozygosity for these mutations, which leads to premature stop codons or structural mutations in transmembrane [odlarmed.com]
Heike Hoyer-Kuhn, Christian Netzer and Oliver Semler, Osteogenesis imperfecta: pathophysiology and treatment Osteogenesis imperfecta: Update zu Pathophysiology und Therapie, Wiener Medizinische Wochenschrift, 10.1007/s10354-015-0361-x, 165, 13-14, (278 [doi.org]
Prevention
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly. This condition is caused by new mutations in the COL2A1 gene. [en.wikipedia.org]
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. 4. [encyclopedia.pub]
0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]