Presentation
Also present were hypoplasia of the ilia, pubic and ischial bones, cataracts, anemia, and hepatomegaly, which were not previously reported in TD. One child died at 26 hours and the other was terminated at 22 weeks' gestation. [jim.bmj.com]
Presentation on theme: "Update on Genetics in Hypertension Christian Delles BHF Glasgow Cardiovascular Research Centre Institute of Cardiovascular and Medical Sciences University. [slideplayer.com]
Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. [mendelian.co]
Entire Body System
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Anemia
Also present were hypoplasia of the ilia, pubic and ischial bones, cataracts, anemia, and hepatomegaly, which were not previously reported in TD. One child died at 26 hours and the other was terminated at 22 weeks' gestation. [jim.bmj.com]
Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration and Progressive Polyneuropathy Type); THMD4 OMIM:614458 Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type); THMD5 OMIM:249270 Thiamine-Responsive Megaloblastic Anemia [informatics.jax.org]
ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2; rts2 Related symptoms: Growth delay Cataract Anemia Frontal bossing Diarrhea SOURCES: ORPHANET More info about ROTHMUND-THOMSON SYNDROME TYPE 2 Top 5 symptoms// [mendelian.co]
Harris RE, Baehner RL, Gleiser S, Weaver DD, Hodes ME (1981) Cartilage-Hair hypoplasia defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Med Genet 8:291–297 CrossRef PubMed Google Scholar 7. [link.springer.com]
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Physician
There are many physicians who do not have a desk computer or do not History feel at ease in using one. [books.google.com]
Physicians, Nurse Practitioners and PAs, already on Doximity. [doximity.com]
Despite the advances in the prenatal ultrasonography, diagnosis of specific skeletal dysplasia remains difficult, with the largest study reporting an accurate prenatal diagnosis by the referring physicians in less than one third of cases. 9, 10 Technical [ispub.com]
The physician diagnosed the self-possessed with vascular dementia (multi-infarct dementia). [nhha.org]
Physicians have to be aware of these resources and help their patients take advantage of the support they provide. [mafiadoc.com]
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Inguinal Hernia
Pulmonary hypoplasia, anemia, VSD and bicuspid aortic valve, strabismus, bilateral inguinal hernias, and hypospadias were present. A head MRI revealed third and lateral ventricle dilatation, small foramen magnum, and low cerebellar tonsils. [jim.bmj.com]
hernia Respiratory distress Proteinuria Respiratory tract infection Short foot Renal hypoplasia Coxa vara Stage 5 chronic kidney disease Functional respiratory abnormality Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Short [mendelian.co]
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Multiple Congenital Anomalies
congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [bioreference.net]
Thrombocytopenia multiple congenital anomaly[?] Thrombocytopenia purpura[?] Thrombocytopenia Robin sequence[?] Thrombocytopenia[?] Thrombocytopenic purpura, autoimmune[?] Thrombocytosis[?] Thrombomodulin anomalies, familial[?] [encyclopedia.kids.net.au]
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Broad Thumb
thumbs Trigonocephaly ptosis coloboma Trigonocephaly ptosis mental retardation Trigonomacrocephaly tibial defect polydactyly Trihydroxycholestanoylcoa oxidase isolated deficiency Trimethadione antenatal infection Trimethylaminuria Triopia Triose phosphate-isomerase [bioreference.net]
Trigonocephaly broad thumbs[?] Trigonocephaly ptosis coloboma[?] Trigonocephaly ptosis mental retardation[?] Trigonomacrocephaly tibial defect polydactyly[?] Trihydroxycholestanoylcoa oxidase isolated deficiency[?] [encyclopedia.kids.net.au]
thumbs Trigonocephaly ptosis coloboma Trigonocephaly ptosis mental retardation Trigonomacrocephaly tibial defect polydactyly Trihydroxycholestanoylcoa oxidase isolated deficiency Trimethadione antenatal infection Trimethylaminuria Triopia Triosephosphate [en.wikipedia.org]
Liver, Gall & Pancreas
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Hepatomegaly
Also present were hypoplasia of the ilia, pubic and ischial bones, cataracts, anemia, and hepatomegaly, which were not previously reported in TD. One child died at 26 hours and the other was terminated at 22 weeks' gestation. [jim.bmj.com]
[…] to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Frontal bossing and Hyperkeratosis, related diseases and genetic alterations Microphthalmia and Hepatic failure, related diseases and genetic alterations Hepatomegaly [mendelian.co]
Musculoskeletal
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Skeletal Dysplasia
Abstract Thanatophoric dysplasia (TD) is a lethal short-limbed skeletal dysplasia with characteristic findings of micromelia, bowed femurs, narrow thorax, and short ribs. [jim.bmj.com]
skeletal dysplasias in subsequent sections of this chapter. [radiologykey.com]
Recurrence of short rib polydactyly syndrome — a rare skeletal dysplasia. Eur J Obstet Gynecol Reprod Biol 2000; 89: 193–195. PubMed CrossRef Google Scholar 13. Lavanya R, Pratap K. Short rib polydactyly syndrome—a rare skeletal dysplasia. [link.springer.com]
Nearly 300 disorders are included in this entity; most of them are heritable diseases. 2 Although most of the diseases are rare, skeletal dysplasia as an entity is common. [mhmedical.com]
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Platyspondyly
The Glasgow variant of TD was originally described in two female siblings with micromelia, curved femurs, mild platyspondyly, shortened ribs, and abnormal endochondral ossification, features also seen in TD. [jim.bmj.com]
[…] anomalies relatively normal trunk length narrow thorax due to short ribs (respiratory insufficiency) with protuberant abdomen wide-cupped costochondral junctions small abnormally formed scapulae short ribs small foramen magnum cloverleaf skull rarely severe platyspondyly [humpath.com]
Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). [ghr.nlm.nih.gov]
This disorder is characterized by extremely short stature, dark blue sclerae, severe limb deformity, multiple fractures of ribs, minimal calvarial mineralization, platyspondyly, and marked compression of long bones. [ncbi.nlm.nih.gov]
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Short Extremities
cloverleaf skull, very short extremities, small thorax) that raise the possible diagnosis of TD in a fetus not known to be at risk. Once a lethal skeletal dysplasia is identified prenatally, it is often difficult to pinpoint a specific diagnosis. [ncbi.nlm.nih.gov]
Eyes
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Strabismus
Pulmonary hypoplasia, anemia, VSD and bicuspid aortic valve, strabismus, bilateral inguinal hernias, and hypospadias were present. A head MRI revealed third and lateral ventricle dilatation, small foramen magnum, and low cerebellar tonsils. [jim.bmj.com]
Intellectual disability, moderate Coloboma Microcornea Long eyelashes Knee flexion contracture Chorioretinal coloboma Ventricular septal defect Precocious puberty Anophthalmia Retinal coloboma Sclerocornea Ectopia pupillae 2-3 toe syndactyly Monocular strabismus [mendelian.co]
Skin
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Eruptions
Ectodermal abnormalities included fine, scant scalp hair, minimal body hair, delayed dental eruption, thin, brittle fingernails, and hypoplastic toenails. [jim.bmj.com]
Psychiatrical
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Suggestibility
We further expand the phenotype of the Glasgow variant of TD to include survival beyond infancy and ectodermal components and suggest that these factors be considered when counseling families about outcomes for patients with radiograph findings suggestive [jim.bmj.com]
Clubbing of the hand is very suggestive of “radial-ray” anomalies. [mafiadoc.com]
IFITM5, IFT172, INPPL1, KIAA0586, LBR, LEPRE1(P3H1), LIFR, NEK1, PEX7, PLOD2, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TMEM38B, TRIP11, TRPV4, TTC21B, WDR34, WDR35 Clinical Utility: Prenatal diagnosis in a fetus based on ultrasound findings suggestive [genedx.com]
A study by Martin et al suggested another mechanism for FGFR3 interference with the growth plate. [emedicine.medscape.com]
Workup
[…] narrow the differential diagnosis of skeletal dysplasias so that appropriate confirmatory molecular tests can be selected, (2) to predict lethality; and (3) to identify the fetus with a skeletal dysplasia early enough in pregnancy so that the diagnostic workup [radiologykey.com]
Treatment
Treatment - Thanatophoric dysplasia Glasgow variant Not supplied. Resources - Thanatophoric dysplasia Glasgow variant Not supplied. [checkorphan.org]
Vasodilators; Home; Diabetes; Expert Answers; Diabetes treatment Can cinnamon lower blood sugar; Mayo Clinic Footer. Exercise for intermittent claudication. [opther.eu]
Genet.. 2015 Oct 23 The management and treatment of children with Fabry disease: A United States-based perspective. Hopkin, R. J.,Jefferies, J. L.,Laney, D. A.,Lawson, V. H.,Mauer, M.,Taylor, M. R.,Wilcox, W. R. ;Mol. Genet. [doximity.com]
Thanatophoric Dysplasia Source/Author: Suzanne M Carter, MS, Susan J Gross, MD, FRCS(C), FACOG, FACMG; E-medicine Web-based (medical) Description of condition in medical terminology, including clinical information, diagnosis, treatment and patient information [lpamrs.memberclicks.net]
Rimoin DL, Krakow D. skeletal dysplasia in new Med: Diagnosis and treatment of unborn child. Reddick, Fla, Idelson-Gnocchi, 1999;63-65. 11. Bronshtein M, Keret D, Deutsh M, Liberson A, Bar Chava I. [ispub.com]
Prognosis
PMID: 3901754 Prognosis Connor JM, Connor RA, Sweet EM, Gibson AA, Patrick WJ, McNay MB, Redford DH Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. [ncbi.nlm.nih.gov]
Prognosis - Thanatophoric dysplasia Glasgow variant Not supplied. Treatment - Thanatophoric dysplasia Glasgow variant Not supplied. Resources - Thanatophoric dysplasia Glasgow variant Not supplied. [checkorphan.org]
The mode of inheritance appears to be autosomal dominant with reduced penetrance. 18 As it is a non lethal condition, compatible with near normal life and a fair prognosis with orthopedic corrective measures, even after prenatal diagnosis, standard obstetrical [ispub.com]
Etiology
Etiology Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. PMID: 3901754 Diagnosis Connor JM, Connor RA, Sweet EM, Gibson AA, Patrick WJ, McNay MB, Redford DH Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. [ncbi.nlm.nih.gov]
Sequencing of the FGFR3 gene has been normal, and molecular studies are ongoing to further characterize the etiology of this condition. [jim.bmj.com]
Torrance type PLSD (MIM.151210) (no FGFR3 mutations described) San Diego type PLSD (MIM.270230) (FGFR3 mutations) Glasgow type PLSD (MIM.273680) SADDAN syndrome (severe achondroplasia with developmental delay and acanthosis nigricans) (FGFR3 mutations) Etiology [humpath.com]
Abstract Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias; that occur as an isolated anomaly or as a part of a syndrome. [ispub.com]
Epidemiology
Epidemiology of osteochondrodysplasias: Changingtrends due to advances in prenatal diagnosis. Am JMedGenet 61: 4958.Rue H, Martino S, Chopin N. 2009. [docslide.us]
Epidemiology of osteochondrodysplasisa: changing trends due to advances in prenatal diagnosis. Am J Med Genet. 1996;61:49-58. Spranger J. International nomenclature of constitutional bone diseases (the Paris nomenclature). [msjonline.org]
Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis. Am J Med Genet 1996; 61: 49–58. PubMed CrossRef Google Scholar 7. Cassart M, Massez A, Cos T, Tecco L, Thomas D, Van Regemorter N et al. [link.springer.com]
Epidemiology Frequency United States Thanatophoric dysplasia (TD) has an incidence of 1 per 20,000 to 1 per 50,000 births. International Incidence in Spain is reported as 1 per 37,000 births. [emedicine.medscape.com]
Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 1996; 61:49-58. 14. American Institute of Ultrasound in Medicine. [ispub.com]
Pathophysiology
Germline mosaicism has not been clearly documented but remains a theoretical possibility. [1, 2] Pathophysiology FGFR3 is part of the tyrosine kinase receptor family. Normally, FGFR3 is a negative regulator of bone growth. [emedicine.medscape.com]
Prevention
Prevention - Thanatophoric dysplasia Glasgow variant Not supplied. [checkorphan.org]
Age-adjusted osteochondrodysplasia mortality rates(100,000): changing trend (top), smoothed annual rates bysex (center) and 5-yearly rates by sex (bottom).MORALES-PIGA ET AL. 1557dures prevent direct comparisons among the individual studies, as awhole [docslide.us]
The DOR agonists may contend in a role in reversing or preventing hyperalgesia, frantic bore, and long-standing sadden after mistreatment. [nhha.org]
These conditions are not lethal because the bones are abnormal, but because the ribs are too short and thus prevent the normal growth of the lungs. It is the resulting pulmonary hypoplasia that is lethal. [mafiadoc.com]