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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]
& growth disturbances resulting in angular deformities & leg length discrepancies; - limb length inequality may be of sufficient severity to require surgery; - Radiographs[wheelessonline.com]
More usually, a child presents with swelling of the fingers, deformity or shortening of a limb.[boneandspine.com]
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Pseudoachondroplasia
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]
(Leri-Weil disease): limb shortening with a Madelung deformity mesomelic dysplasia type Langer type Reinhardt-Pfeiffer Acromesomelic (middle and distal segment limb shortening[radiopaedia.org]
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]
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Spinal Muscular Atrophy
Later in life, abnormal gait and foot deformities are seen.[encyclopedia.com]
There may be deformities of limbs/joints at birth from in utero hypotonia.[patient.info]
As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu]
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Thrombocytopenia-Absent Radius Syndrome
[…] exception in that the thumb is most often present and normal (or near normal ) in size and function ; other radial aplasia / dysplasia syndromes are associated with significant deformity[urmc-mirc2.urmc.rochester.edu]
Surgical correction of deformities may be necessary.[patient.info]
Roberts Syndrome (no hematological abnormality, severe shortening of limbs and facial anomalies).[fetalultrasound.com]
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Maffucci Syndrome
Symptoms & Types Maffucci syndrome symptoms: Severe bone deformities that shorten the limbs and cause fractures Short stature and underdeveloped muscles Red or purplish growths[texaschildrens.org]
It classically associates multiple soft tissue haemangiomas and enchondromas of the limbs.[omicsonline.org]
, shortened limbs, and shorter stature.[bostoncommonpodiatry.com]
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Spinal Muscular Atrophy Type 1
There may be deformities of limbs/joints at birth from in utero hypotonia.[patient.info]
As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles.[cedars-sinai.edu]
Musculoskeletal deformities, respiratory failure.[patient.info]
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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]
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Sprengel's Deformity
This congenital deformity presents itself as an asymmetry of the shoulder blades, and mobility of the affected limb is diminished because of the failure of the shoulder blade[poasa.com]
[…] unilateral Shoulder MSK Embryological Development Scapula develops with the rest of the upper limb Differentiates week 5 Descends to final anatomical position weeks 9-12[prezi.com]
The child should also be checked for limb length discrepancies and muscle weakness.[orthoseek.com]
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Foot Deformity
Congenital deformities of the lower limbs are developmental disorders that are present at birth, causing alterations in the shape and appearance of the legs.[samermorgan.com]
We approach these limb salvage situations with ankle reconstruction and simultaneous bone lengthening.[hss.edu]
Deformity Correction Limb deformities are conditions that affect the bones, muscles and tendons of the lower limb.[davidkaymd.com]
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Madelung Deformity
Lengthening Limb Deformity Correction Hand Surgery Carpal Tunnel Tarsal Tunnel Sports Injuries and Rehabilitation Orthopedic Tumors Orthopedic Trauma Osteonecrosis Bone Infections[lifebridgehealth.org]
This is clearly true in cases of dyschondrosteosis, or mesomelic dwarfism, with associated lower limb involvement.[musculoskeletalkey.com]
[…] the subcutaneous regions of the neck, upper thorax and upper limbs 6 .[radiopaedia.org]