Symptoma

Cerebro-Facio-Thoracic Dysplasia

Pascual-Castroviejo Syndrome Type 1

Mental retar-dation is uniformly present in these patients, though theseverity varies; usually they exhibit a pleasant andaffectionate affect. [docslide.com.br]

Costovertebral abnormalities are always present and may include: short or fused ribs, and misshaped vertebrae or ribs. [diseaseinfosearch.org]

This report further broadens the range ofpossible clinical presentations of CFTD and draws atten-tion to possible complications. [scinapse.io]

Clinical presentation Patients most commonly present with a classic triad of: d... [radiopaedia.org]

Authors; occurring in either or both the lumbar or thoracic spine and is not associated with spinal deformity.We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs. [sacyy.webcindario.com]

  • Pain

    This may include pain or discomfort especially with coughing, exercise, or bowel movements. Infiltración de toxina botulínica en la preparación preoperatoria de las hernias con defectos de 10. Start a new discussion. [sukeyaya.ga]

    Significant chronic back pain in the thoracic or lumbar spine without spinal deformity associated with disc space. Scolioza lombară toracică dysplastică : Rating: 858 / 159 Overall: 968 Rates [sacyy.webcindario.com]

    Clinical presentation Recurrent abdominal pain, cholangitis, pancreatitis, or biliary obstr... [radiopaedia.org]

    Chorea, hereditary, benign Neurological Choreoathetosis, hypothyroidism and neonatal respiratory distress Neurological Cognitive impairment with or without cerebellar ataxia Neurological Complex II deficiency Neurological Congenital indifference to pain [genomediagnosticsnijmegen.nl]

    Lohr C E - - 2004 Chilaiditi's syndrome refers to the symptoms of abdominal pain, distention, vomiting, anorexia, and constipation caused by hepatodiaphragmatic interposition of the intestine. [biomedsearch.com]

  • Poor Feeding

    feeding [ more ] 0011968 Flat face Flat facial shape 0012368 Gingival overgrowth Gum enlargement 0000212 Hemivertebrae Missing part of vertebrae 0002937 High palate Elevated palate Increased palatal height [ more ] 0000218 Highly arched eyebrow Arched [rarediseases.info.nih.gov]

  • Gingival Overgrowth

    […] skull 0000248 Cleft palate Cleft roof of mouth 0000175 Cleft upper lip Harelip 0000204 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Flat face Flat facial shape 0012368 Gingival [rarediseases.info.nih.gov]

  • Narrow Thorax

    Note elongated, narrow thorax, with short ribs and wide anterior ends. Also note handlebar clavicular configuration short neck, coarse facies, and protuberant abdomen. [rrnursingschool.biz]

    Inguinal hernia 2 2 2 SkeletalCostovertebral anomalies Narrow thorax 2 2 Raised scapulae 2 2 2 2Central nervous systemAnomaly septum pellucidum ? 2 2Hypoplasia corpus callosum ? 2 2 2 Hypoplasia cerebellar vermis 2 2 2 2 2 2 M. [docslide.com.br]

  • Short Trunk

    A dominantly inherited form of short-trunked dwarfism. American Journal of Medicine, 54,948. Rubinstein, J. H., Taybi, H. (1963) Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. [vdocuments.site]

  • Low-Set Posteriorly Rotated Ears

    posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

    posteriorly rotated ears 0000368 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Microdontia of primary teeth Decreased width of baby teeth Decreased width of milk teeth [ more ] 0006347 Micrognathia Little [rarediseases.info.nih.gov]

    posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. [scinapse.io]

  • Widely Spaced Nipples

    nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nose Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ] 0000445 [rarediseases.info.nih.gov]

  • Short Neck

    The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially [ncbi.nlm.nih.gov]

    Dysmorphic features, synophris,hypertelorism, low hairline, short neck, moderate hypotonia, severe mentalretardation and dorsolumbar scoliosis.Fig. 2. [docslide.com.br]

    neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

    neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant [rarediseases.info.nih.gov]

  • Narrow Forehead

    We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped [ncbi.nlm.nih.gov]

    The second patient has hypodensity of t... more Abstract We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism [scinapse.io]

    the skull being brachy- cephalic with a flat occiput and a narrow forehead. The nasal bridge was wide, the ears low-set and the neck was short, with excessive skin over the nape. [vdocuments.site]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Abnormal anterior curvature of the lumbar spine (swayback or Asphyxiating thoracic dysplasia (Jeune syndrome.Skeletal Dysplasia: Treatments. [sacyy.webcindario.com]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

An accurate and early syndromic diagnosis of congenital malformations is of vital importance, as late diagnosis can result in a delay in intervention and treatment of accompanying anomalies such as congenital heart defects or endocrine disorders. [centogene.com]

CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. [scinapse.io]

Acute spinal cord ischemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor. [radiopaedia.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

We report a patient with Seckel ... 547 Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for ... [biomedsearch.com]

The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio... Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain. [radiopaedia.org]

M.L.Budarf and B.S.Emanuel, A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22qll. Am.J.Hum.Genet. 50 (1992) 924–933. [link.springer.com]

The etiology of DOS is not known. The normal bone scan shows that unlike MOP this disorder is not a result of osteoclastic dysfunction or osteoblastic hyperfunc- tion. [documents.tips]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies. Am.J. Med.Genet. 51 (1994) 108–113. [link.springer.com]

The real X-Men fought and defeated Cerebro 's team, and prevented the satellite from exploding ... [liquisearch.com]

Genetics, Genetic Counseling, and Prevention 4. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes 5. Normal Standards Appendix I Pattern of Malformation Differential Diagnosis by Anomalies show more [bookdepository.com]

Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal ... 523 Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping ... [biomedsearch.com]

Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]