Symptoma

Thin Ribs - Tubular Bones - Dysmorphism Syndrome

Sharma-Kapoor-Ramji Syndrome

PubMed Google Scholar Novembri A, Franchini F, Calzolari C, Vieri PL, Giovannucci ML: K.G.B. syndrome: review of the literature and presentation of a case. Arch Putti Chir Organi Mov. 1983, 33: 423-430. [ojrd.biomedcentral.com]

[…] noted The distinct positioning of the body includes internally rotated and adducted shoulders; fixed, extended elbows; pronated forearms; and flexed wrists and fingers A severe talipes equinovarus deformity with either flexed or extended knees may be present [emedicine.medscape.com]

Metaphyseal chondrodysplasia, Schmid type (OMIM 156500), a condition with autosomal dominant inheritance, is the most common form of meta-physeal dysplasia, presenting in the second year of Fig. 5.11 a,b. [rrnursingschool.biz]

Individuals presenting with disproportionate short stature will have altered ratios depending on whether they have short limbs, short trunk, or both. [nature.com]

  • Macrocephaly

    Symptoms and clinical features of the condition may include: 1 Clinical Features of Thin ribs-tubular bones-dysmorphism syndrome : Abnormality of the palate Macrocephaly Low-set, posteriorly rotated ears Abnormality of the ribs Intrauterine growth retardation [familydiagnosis.com]

    Bones-Dysmorphism Syndrome Symptoms & Phenotypes for Thin Ribs-Tubular Bones-Dysmorphism Syndrome Human phenotypes related to Thin Ribs-Tubular Bones-Dysmorphism Syndrome: 59 32 (show all 9) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 macrocephaly [malacards.org]

  • Torticollis

    Torticollis keloids cryptorchidism renal dysplasia Torulopsis Tosti–Misciali–Barbareschi syndrome Total hypotrichosis, Mari type Tou–Tox [ edit ] Touraine–Solente–Golé syndrome Tourette syndrome Townes–Brocks syndrome Toxic conjunctivitis Toxic shock [en.wikipedia.org]

  • Muscle Tenderness

    tenderness * Bowing, congenital, short bones - short ribs Prevention - Thin ribs tubular bones dysmorphism Not supplied. [checkorphan.org]

  • Low-Set Posteriorly Rotated Ears

    Symptoms and clinical features of the condition may include: 1 Clinical Features of Thin ribs-tubular bones-dysmorphism syndrome : Abnormality of the palate Macrocephaly Low-set, posteriorly rotated ears Abnormality of the ribs Intrauterine growth retardation [familydiagnosis.com]

    posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368 3 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772 4 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511 [malacards.org]

  • Frontal Bossing

    bossing Abnormality of pelvic girdle bone morphology Slender long bone • • • References Source: Human Phenotype Ontology • • • Note: This site is for informational purposes only and is not medical advice. [familydiagnosis.com]

    bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007 6 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644 7 slender long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003100 8 abnormality [malacards.org]

    However, distinct features in Antley-Bixler syndrome include radio-humeral synostosis (100%), arachnodactyly (70%), brachycephaly with frontal bossing (100%), cran-iosynostosis (70%), depressed nasal bridge (100%), choanal stenosis/atresia (80%), and [rrnursingschool.biz]

    Abnormal cranial molding occurs in utero and during infancy, producing frontal bossing and a characteristic triangular shaped facies. [nature.com]

  • Broad Nasal Bridge

    It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin [emedicine.medscape.com]

  • Seizure

    Neurological Non-specific EEG anomalies occur in 72% of the patients and one quarter of them develop seizures (transient childhood epilepsy, grand mal seizures). [ojrd.biomedcentral.com]

  • Tremor

    Transient neonatal arthrogryposis Transitional cell carcinoma Transplacental infections Transposition of great vessels Transverse limb deficiency hemangioma Transverse myelitis TRAPS Tre [ edit ] Treacher Collins syndrome Treft–Sanborn–Carey syndrome Tremor [en.wikipedia.org]

  • Akinesia

    […] to secondary contractures Pena-Shokeir phenotype (OMIM 208150) is characterized by pulmonary hypoplasia, intrauterine growth retardation, polyhydramnios, short umbilical cord, unusual craniofacies, and short, fixed limbs; phenotype is caused by fetal akinesia [emedicine.medscape.com]

  • Torsades De Pointes

    de pointes Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism renal dysplasia Torulopsis Tosti–Misciali–Barbareschi syndrome Total hypotrichosis, Mari type Tou–Tox [ edit ] Touraine–Solente–Golé syndrome Tourette syndrome Townes–Brocks [en.wikipedia.org]

Whats the best treatment to get rid of them Dr. Albert Melaragno Dr. [healthtap.com]

Treatment - Thin ribs tubular bones dysmorphism Not supplied. Resources - Thin ribs tubular bones dysmorphism Not supplied. [checkorphan.org]

Among the skeletal defects, only pathologic spine curvatures and eventual limb length discrepancies require specialist evaluation and treatment. In general, other vertebral anomalies are asymptomatic and do not require treatment. [ojrd.biomedcentral.com]

In a 13-month- old girl 1 month after the beginning of treatment the metaphyses are cupped, with a marginal band of increased density due to recalcification of the provisional zone. [rrnursingschool.biz]

Prognosis - Thin ribs tubular bones dysmorphism Not supplied. Treatment - Thin ribs tubular bones dysmorphism Not supplied. Resources - Thin ribs tubular bones dysmorphism Not supplied. [checkorphan.org]

The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI. [nature.com]

Abnormal hair implantation 58 (45) Minor Features Cutaneous syndactyly, toes II/III 46 (45) Webbed/short neck 42 (38) Cryptorchidism 28 (29) Hearing loss 23 (43) Palatal defects (including uvula) 18 (38) Strabismus 18 (45) Congenital heart defects 9 (45) Epidemiology [ojrd.biomedcentral.com]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 1988; 543 : 1–15. 58. Madigan WP, Wertz D, Cockerham GC, Thach AB. [nature.com]

Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6. [nature.com]

[…] head Causes - Thin ribs tubular bones dysmorphism * Achondrogenesis - short ribs * Atelosteogenesis, type 2 - short ribs * Beemer-Langer syndrome - short ribs * Bornholm disease - rib muscle tenderness * Bowing, congenital, short bones - short ribs Prevention [checkorphan.org]

And prevent break Dr. Otto Placik Dr. [healthtap.com]