Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. [ncbi.nlm.nih.gov]

congenital anomalies. [genome.jp]

Wagner: Multiple congenital anomaly caused by an extra autosome. The Lancet, London, 1960, I: 790. What is an eponym? [whonamedit.com]

This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and [books.google.de]

Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple [books.google.de]

This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and [books.google.de]

Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid formation that can occur alone or in combination with multiple congenital anomalies as part of [ncbi.nlm.nih.gov]

She had multiple congenital anomalies which included a cardiac defect and airway abnormalities. [ncbi.nlm.nih.gov]

Keywords Patau syndrome trisomy 13 multiple congenital anomalies Pierre Robin syndrome metabolic abnormalities fluorescence in situ hybridization DNA-microarray This is a [doi.org]

[…] heart defect and multiple congenital anomalies. [molecularcytogenetics.biomedcentral.com]

Keywords Pierre robin syndrome; Mobius syndrome; Palatoglossal fusion; Fiberoptic intubation Introduction Pierre Robin Syndrome (PRS) is a congenital syndrome with multiple [omicsonline.org]

OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls.[…] [ncbi.nlm.nih.gov]

Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta. [magicfoundation.org]

[…] arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus, abnormal finger nails, intestinal telangiectasia and hypoplastic nipples. [magicfoundation.org]

Characteristics Children with Turner's Syndrome may have the following physical findings; congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high [magicfoundation.org]

Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK [ncbi.nlm.nih.gov]

Maternal pesticide exposure from multiple sources and selected congenital anomalies. [ncbi.nlm.nih.gov]

Most likely, as with many other congenital (present at birth) anomalies, multiple factors can contribute to this condition. [muhealth.org]

11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H01754 [genome.jp]

More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being. [1] Most craniofacial anomalies [jdrntruhs.org]

Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Other congenital malformations H01754 Crouzon syndrome Human diseases in ICD- [genome.jp]

Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. [ncbi.nlm.nih.gov]

Bioethical considerations remain important in the care of babies with multiple congenital anomalies. [ncbi.nlm.nih.gov]

Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. [ncbi.nlm.nih.gov]

congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased [commons.wikimedia.org]

[…] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without [genome.jp]

[…] file multimediale Wikipedia Istanza di malattia, difetto dello sviluppo durante l'embriogenesi Sottoclasse di chromosomal disease, nanismo primordiale, inherited tumor, multiple [commons.wikimedia.org]