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Amelia and Terminal Transverse Hemimelia

Presentation

According to the results of this comprehensive study, congenital feet deformities were present in 13.8% of all cases with amelia [4]. [hindawi.com]

can be transverse or paraxial - ie fibula hemimelia may have lesser toes present Acrosyndactyly - fusion of fingers distally with proximal fenestrations Brachysyndactyly - shortening of syndactyl digit Aetiology Normal development - limb buds develop [boneschool.com]

BASIC SCHEMA FOR CLASSIFICATION OF CONGENITAL SKELETAL LIMB DEFICIENCIES - Fig. 1 presents a basic schema for the classification of congenital skeletal limb deficiencies which has been adapted from one originally presented by Dr. Cameron B. [oandplibrary.org]

Afunctional rudimentary remaining fingers may be present. Pro- and supination are as a rule possible. [obgynkey.com]

Limb and Back Reduction Deficiency Present at Birth. In: Pediatric Orthopedics. [link.springer.com]

Entire Body System

  • Falling

    Our patient falls outside this classification as all of his extended family members are healthy and he does not present phenotypical characteristics of any subtype of brachymesophalangy. [hindawi.com]

Musculoskeletal

  • Flexion Contracture

    Flexion contractures and instability of the hip and knee are frequently present (25). Classification of PFFD The most common classification for PFFD is the one described by Aitken (26). [pubs.rsna.org]

  • Coxa Vara

    Figure 3 Right PFFD and right coxa vara deformity in a 12-year-old girl. Orthoroentgenogram shows the measurements to assess the lower extremity length discrepancy. [pubs.rsna.org]

Psychiatrical

  • Suggestibility

    You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. share alike – If you remix, transform, or build upon the material, you must distribute your contributions under the same or compatible license [commons.wikimedia.org]

    There is inconclusive evidence to suggest that the anteromedial tibial bow, which is occasionally seen, changes over time. [musculoskeletalkey.com]

Face, Head & Neck

  • Pierre Robin Syndrome

    Cleft palate, upper limb hemimelias, and Pierre Robin syndrome have been reported (27). Figure 9a Bilateral PFFD and multiple associated deformities in a 13-year-old girl. [pubs.rsna.org]

Treatment

Empowering well-informed parents to seek realistic treatment solutions for their child is an essential part of the treatment process. [musculoskeletalkey.com]

Secondary care treatment: treatment is only necessary if the child is functionally limited because of the deficiency. Future prospects for an improvement in function is a prerequisite for treatment. [obgynkey.com]

The objectives of treatment are hip stability, leg strengthening, equalization of the lower extremity length, and achievement of near normal anatomic alignment (11). [pubs.rsna.org]

However, causing not only a significant physical disability but also a serious cosmetic discomfort, bilateral upper limb meromelia requires a comprehensive treatment approach. [hindawi.com]

Etiology

Holmes, “Anatomic and etiological classification of congenital limb deficiencies,” American Journal of Medical Genetics Part A, vol. 155A, no. 6, pp. 1225–1235, 2011. [hindawi.com]

CONGENITAL DEFICIENCIES OF THE LOWER EXTREMITY Fibular Deficiency Epidemiology and Etiology. [musculoskeletalkey.com]

The etiology of congenital pseudoarthrosis of the tibia is unknown; however, 55% of patients with pseudoarthrosis have neurofibromatosis type 1 (44,45). [pubs.rsna.org]

Epidemiology

Discussion In a recent epidemiologic study which was carried out by evaluating the large data set collected by 20 surveillance programs on congenital anomalies, other congenital anomalies were shown to accompany 66.9% of the cases with amelia. [hindawi.com]

CONGENITAL DEFICIENCIES OF THE LOWER EXTREMITY Fibular Deficiency Epidemiology and Etiology. [musculoskeletalkey.com]

Epidemiology and treatment outcome of congenital pseudarthrosis of the tibia. J Child Orthop 2013;7(2):157–166. Crossref, Medline, Google Scholar 45. Andersen KS. Congenital pseudarthrosis of the tibia and neurofibromatosis. [pubs.rsna.org]

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