Presentation
In addition, a complete agenesis of corpus callosum, cerebellar vermis hypoplasia with molar tooth sign and Dandy-Walker malformation were present. [ncbi.nlm.nih.gov]
Entire Body System
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Wound Infection
Actinomycosis is most probably the consequence of a postoperative wound infection after a prior surgical intervention. Both Actinomyces species were identified by 16S rRNA gene sequencing. [agris.fao.org]
Respiratoric
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Sighing
[…] coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author’s mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh [books.google.com]
Jaw & Teeth
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Macrostomia
[…] diagnosis of Tessier number 7 cleft (macrostomia) associated with femoral hypoplasia-unusual facies syndrome (FH-UFS) was considered. [radiologykey.com]
Skin
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Kinky Hair
الصفحة 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. [books.google.com]
Breast
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Widely Spaced Nipples
We describe a new case with facial dysmorphism, broad chest and widely spaced nipples, shorter right lower limb with femoral hypoplasia and unilateral fibular hemimelia, bilateral absence of 5th metatarsal and toe, and bilateral talipes equinovarus. [ncbi.nlm.nih.gov]
Neurologic
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Communicating Hydrocephalus
The child had unusual facies with posterior cleft palate, non-communicating hydrocephalus and complete absences of left femur, hypoplasia of right femur, bilateral club foot and bilateral undescended testis. [unboundmedicine.com]
Treatment
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]
Treatment Goals of treatment of PFFD To compensate for the functional deficits No single treatment approach applies to all cases Each person with PFFD must be assessed individually Cosmetic is much less of an issue 24. [slideshare.net]
Congenital abnormalities of the femur and related lower extremity malformations: classification and treatment. Proximal femoral focal deficiency: a 50-year experience. Proximal femoral focal deficiency: natural history and treatment. [wheelessonline.com]
Prognosis
Prenatal sonographic features, differential diagnosis, prognosis and management are discussed. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up. [ncbi.nlm.nih.gov]
Prenatal sonographic features, differential diagnosis, prognosis and management are discussed. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up. 2005 S. [karger.com]
The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed. 2013 Wiley Periodicals, Inc. [doi.org]
The prognosis can be variable depending on the presence of associated anomalies Promoted articles (advertising) [radiopaedia.org]
Surgical reconstruction results in a good prognosis. [sjmms.net]
Etiology
Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. [ncbi.nlm.nih.gov]
FEMORAL HYPOPLASIA – UNUSUAL FACIES SYNDROME The etiology of this syndrome is unknown. The vast majority of cases are sporadic, however a familial occurrence has been reported raising the possibility of autosomal dominant inheritance. [fetalultrasound.com]
Epidemiology
Introduction Congenital defect of the proximal femur spectrum of disease includes absent hip femoral neck pseudoarthrosis absent femur shortened femur Epidemiology location bilateral (15%) Pathophysiology defect in the primary ossification center (cartilage [orthobullets.com]
Pathophysiology
Introduction Congenital defect of the proximal femur spectrum of disease includes absent hip femoral neck pseudoarthrosis absent femur shortened femur Epidemiology location bilateral (15%) Pathophysiology defect in the primary ossification center (cartilage [orthobullets.com]
Prevention
الصفحة 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. [books.google.com]
It is also preferable because spiking as found in transtibial amputations, is prevented. [oandplibrary.org]