-
Thrombocytopenia-Absent Radius Syndrome
Prenatal diagnosis An ultrasound scan at 12 weeks may show up the absent radii and other limb deformities.[contact.org.uk]
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. Orthopedic Surgery, 7 , 50–56. CrossRef Google Scholar Albers, C.[link.springer.com]
Average 4.0 of 15 Ratings Question COMMENTS (8) (OBQ08.19) A 2-year-old boy has the upper limb deformity seen in Figures A and B.[orthobullets.com]
-
Miller Dieker Syndrome
deformities, failure to thrive, psychomotor retardation and infant death.[eyewiki.aao.org]
[…] predominately a genetic disorder. [2] [3] In general, Lissencephaly is frequently associated with a number of systemic manifestations such as microcephaly, seizures, unusual facies, limb[eyewiki.aao.org]
-
Pseudoachondroplasia
Patients with pseudoachondroplasia present with gait abnormalities, lower limb deformity, or a retarded growth rate that characteristically appear at age 2-3 years.[en.wikipedia.org]
Children are normal at birth and they present developmental delay in walking by the age of 2, an abnormal waddling gait or deformities of the lower limb.[comprped.com]
Children at 2–3 years of age present with short height, gait disturbances, or limb deformities.[scienceopen.com]
-
Enchondromatosis
[…] lengthening and reconstruction, this guide provides step-by-step details on the latest surgical procedures for the correction of limb deformities due to congenital defects[books.google.com]
Treatment of lower limb deformities and limb-length deficiencies with the external fixator in Ollier’s disease.[healio.com]
& growth disturbances resulting in angular deformities & leg length discrepancies; - limb length inequality may be of sufficient severity to require surgery; - Radiographs[wheelessonline.com]
-
Maffucci Syndrome
[…] alone (Ollier’s disease) comprises multiple benign tumors of mature hyaline cartilage (enchondromas) in the metaphysis of long bones and digits, frequently resulting in limb[anesthesiology.pubs.asahq.org]
[…] of the lower limbs.[medvik.cz]
Enchondromas in the metaphyseal regions of long bones may also result in deformity and limb asymmetry, as well as pathological fractures 1 .[jrheum.org]
-
Spinal Muscular Atrophy
There may be deformities of limbs/joints at birth from in utero hypotonia. There may be a history of reduced fetal movements in utero.[patient.info]
Tremors affecting the upper extremities, musculoskeletal deformities, and respiratory failure occur.[encyclopedia.com]
Limb girdle weakness, twitching, lack of reflexes, and weakness of tongue, face, and neck muscles are seen.[encyclopedia.com]
-
Spinal Muscular Atrophy Type 1
, absence of tendon reflexes, a range of skeletal deformities and consequent breathing difficulties, as well as impaired swallowing and sucking that predisposes to growth[symptoma.com]
There may be deformities of limbs/joints at birth from in utero hypotonia. There may be a history of reduced fetal movements in utero.[patient.info]
[…] early onset of symptoms in the first six months of life, most important being inability of infants to sit on their own and control their heads, reduced muscle tone of the limbs[symptoma.com]
-
Nortriptyline
Freeman R: Limb deformities: possible association with drugs. Med J Aust 1:606-7, 1972.[reprotox.org]
McBride WG: Limb deformities associated with iminodibenzyl hydrochloride. Med J Aust 1:492, 1972. Barson AJ: Malformed infant. Br Med J 2:45, 1972.[reprotox.org]
-
Genee-Wiedemann Syndrome
Limb- mammary syndrome 0 *Limb Deformities, Congenital Breast/abnormalities.[reference.md]
Genee- Wiedemann syndrome 0 *Abnormalities, Multiple *Mandibulofacial Dysostosis *Micrognathism *Limb Deformities, Congenital.[reference.md]
Split hand foot deformity 0 *Limb Deformities, Congenital *Genetic Diseases, X-Linked.[reference.md]
-
Congenital Macroglossia
Microglassia without limb deformity can occur but they are also associated with some other birth defects such as partial anodontia, sublingual gland hypertrophy and dextrocadia[drpulp.com]
Although microglassias may develop as isolated cases but in most of the cases they occur in association with other anomalies like oromandibular limb hypogenesis syndrome or[drpulp.com]