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]
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]
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 9 mosaicism with multiple congenital anomalies. Journal of Medical Genetics, 10 (2), 180-184.
[uthscsa.influuent.utsystem.edu]
We report on a newborn infant with multiple congenital anomalies and apparent nonmosaic trisomy 9 in the blood (by conventional cytogenetic studies) who died shortly after
[ncbi.nlm.nih.gov]
A term female infant with intrauterine growth retardation and multiple congenital anomalies had trisomy 9 mosaicism in blood and skin fibroblast cultures.
[ncbi.nlm.nih.gov]
We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells.
[ncbi.nlm.nih.gov]
A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented.
[ncbi.nlm.nih.gov]
We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor
[ncbi.nlm.nih.gov]
The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies.
[ncbi.nlm.nih.gov]
anomaly syndromes.
[ncbi.nlm.nih.gov]
We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral
[ncbi.nlm.nih.gov]
United Arab Emirates El Kalla et al. (1992) reported the case of an infant with multiple congenital anomalies, and tetralogy of Fallot.
[cags.org.ae]
Isidor B, Winer N, Joubert M et al. (2008) Inherited 18q23 duplication in a fetus with multiple congenital anomalies.
[els.net]
Article / Publication Details First-Page Preview Abstract A 4 10/12 year old girl with mental defect and multiple minor congenital anomalies was found to have a deletion of
[karger.com]
A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia
[ncbi.nlm.nih.gov]
We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate.
[ncbi.nlm.nih.gov]
And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.
[unboundmedicine.com]
A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri
[ncbi.nlm.nih.gov]
congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
[orpha.net]
Multiple congenital anomalies are present and early death is frequent.13-19 The extent of the clinical findings in the reported cases depends on the length of the trisomic
[jmg.bmj.com]
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]
congenital anomalies and intellectual disability.
[invitae.com]
[…] clinical features of Noonan syndrome overlap with Baraitser-Winter Cerebrofrontofacial (BWCFF) syndrome, a rare autosomal dominant developmental disorder characterized by multiple
[invitae.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]
One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including
[ncbi.nlm.nih.gov]
There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small
[ncbi.nlm.nih.gov]
multiple congenital anomalies that are attributed to amniotic bands that stick, entangle and disrupt fetal parts.1 Neural tube defects, heterotropias, acalvaria and many
[japi.org]
ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO MENTALE SINDROME DA DELEZIONE 8Q24.3 RNG100 ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO MENTALE SINDROME DA DELEZIONE 9Q SUBTELOMERICA
[malattierare.regione.veneto.it]
anomalies; Waardenburg syndrome, type 3; White forelock (poliosis) syndrome with multiple congenital malformations About the Disease Diagnosis & Treatment Living with the
[rarediseases.info.nih.gov]
congenital malformations, Waardenburg syndrome, type 3, Klein-Waardenburg syndrome, WS3, Waardenburg syndrome with upper limb anomalies, Waardenburg syndrome with limb anomalies
[monarchinitiative.org]
Congenital rubella is a viral infection acquired from the mother during pregnancy. Signs are multiple congenital anomalies that can result in fetal death.
[merckmanuals.com]
In the fetus, there may be no effects, death in utero, or multiple anomalies referred to as congenital rubella syndrome (CRS).
[merckmanuals.com]
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]
congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, genetic hypertension, partial deletion of the long arm of chromosome
[commons.wikimedia.org]
rare disease, designated intractable/rare diseases Subclass of chromosomal deletion syndrome, supravalvular aortic stenosis, syndromic developmental defect of the eye, multiple
[commons.wikimedia.org]
[…] malattia, difetto dello sviluppo durante l'embriogenesi Sottoclasse di chromosomal deletion syndrome, supravalvular aortic stenosis, syndromic developmental defect of the eye, multiple
[commons.wikimedia.org]
congenital anomaly syndrome ( Smith-Lemli-Opitz syndrome type 2) orofaciodigital syndromes Varadi-Papp syndrome (OFDS6) syndromal preaxial poydactyly Mohr syndrome Majewski
[humpath.com]
Peer Review reports Background Polydactyly is a relatively common upper limb anomaly compared to other musculoskeletal congenital anomalies [1, 2].
[bmcmusculoskeletdisord.biomedcentral.com]
CONGENITE MULTIPLE GRAVI ED INVALIDANTI CON RITARDO MENTALE (RNG100) SINDROME KBG (RNG101) COLOBOMA CONGENITO CORIORETINICO (RNG101) COLOBOMA CONGENITO DELL'IRIDE (RNG101
[malattierare.toscana.it]
GRAVI ED INVALIDANTI CON BASSA STATURA COME SEGNO PRINCIPALE NANISMO PRIMORDIALE OSTEODISPLASTICO DI MAJEWSKI, TIPO II RNG100 ALTRE ANOMALIE CONGENITE MULTIPLE CON RITARDO
[malattierare.regione.veneto.it]
ZWS causes multiple congenital anomalies dominated by a typical craniofacial dysmorphism, including a high forehead, a large anterior fontanelle, hypoplastic supraorbital
[emedicine.medscape.com]
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]
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]
Mokhtar ABSTRACT: Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies
[emro.who.int]
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet1984;19:195–207.
[jmg.bmj.com]
T21 and T18 were strongly associated with multiple anomalies, especially congenital heart abnormalities.
[ijponline.biomedcentral.com]
If RUNX2 testing is not diagnostic and if strong suspicion persists in an individual with features of CCD spectrum disorder who also has multiple congenital anomalies and/
[ncbi.nlm.nih.gov]
G. (1977) Multiple congenital anomalies associated with oral anticoagulants. American Journal of Obstetrics and Gynecology, 127: 191–198. Spranger, J. W., Opitz, J.
[cambridge.org]
Introduction Binder syndrome is a rare congenital anomaly with multiple etiologies and multiple associated disorders which are poorly understood because of rarity.
[casereports.in]
The congenital abnormalities include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.
[icd10data.com]
The baby had multiple congenital anomalies and the cause of death was cardiorespiratory arrest. No investigations were carried out. Mrs.
[bhj.org.in]
anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial
[se-atlas.de]
[…] acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple congenital
[se-atlas.de]
Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Multiple
[se-atlas.de]
A frequent multiple congenital anomaly/mental retardation syndrome of unknown etiology which affects 1/10,000 newborn infants.
[icd10data.com]
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]
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]
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]
congenital anomalies) indicating other genetic causes may be contributing to the clinical presentation.
[onlinelibrary.wiley.com]
Birth defects are also called congenital anomalies.
[en.wikipedia.org]
[…] available to determine biparental inheritance or with clinical features that are not typically seen in PWS (e.g., seizures, severe intellectual disabilities, classic autism, and multiple
[onlinelibrary.wiley.com]
A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus
[ncbi.nlm.nih.gov]
Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin.
[ncbi.nlm.nih.gov]
