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Patella Aplasia - Hypoplasia

Absent or Hypoplastic Patella


Presentation

  • Posterior iliac horns are pathognomonic for NPS, but reported to be present in only 70% of cases.[jmg.bmj.com]
  • ORPHA:86789 Synonym(s): PTLAH Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal ICD-10: Q74.1 OMIM: 168860 UMLS: C1868577 MeSH: C535568 GARD: 8709 MedDRA: - The documents contained in this web site are presented for information[orpha.net]
  • Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance” to the systemic appearance[books.google.com]
Localized Pain
  • Occasionally, local pain has been reported (Green 1975). Multipartite patella originates from multiple unfused bony foci. A finding similar, and probably related, to patella bipartita is dorsal defect of the patella.[rrnursingschool.biz]
High Arched Palate
  • One of the present cases (case 5) showed a high nasal bridge, micrognathia, and a high arched palate.[jmg.bmj.com]
Hyperhidrosis
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
Keratosis
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
Normal Stature
  • In one of these reports, the index patient, who had a homozygous R279 W mutation in the DTDST gene product, was born to healthy parents who were heterozygous for that mutation and had normal stature, clubfoot, and double-layered patellas (Superti-Furga[rrnursingschool.biz]
Broad Nasal Bridge
  • One of the two sporadic cases described by Kozlowski and Nelson 6 had synophrys, epicanthic folds, a broad nasal bridge, apparently low set, posteriorly angulated ears, anteverted nares, long philtrum, high palate, prominent lower lip, and micrognathia[jmg.bmj.com]
Abnormal Gait
  • Psychomotor development has been normal except for an abnormal gait and weakness of the lower extremities. He had surgery for cryptorchidism at the age of 7½ years.[jmg.bmj.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • 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]
  • Seite 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.de]

Prognosis

  • Treatment and Prognosis There isn’t treatment for underlying disorder. Management must be done in order to prevent and treat the renal complications.[rxpgonline.com]
  • Prognosis of Nail Patella Syndrome 30-55% of patients with nail-patella syndrome develop a renal disease and end-stage renal disease may develop in about 5%. Prognosis after renal transplantation is good.[boneandspine.com]
  • […] cases scoliosis can be severe and require surgery (also see tethered cord syndrome ) In some cases kidney transplantation is required Other treatment Physical therapy Braces, splints for skeletal deformities Social support [4,5] Life expectancy The prognosis[syndromespedia.com]

Etiology

  • The etiology and treatment of congenital dislocation of the knee Katz, M.P.; Grogono, B.J.; Soper, K.C.[deepdyve.com]

Epidemiology

  • Incidence, Epidemiology, and Genetic The incidence of NPS is about 2-3/100.000 births and it haven’t any ethnic prevalence. Inheritance occurs as an autossomal dominant trait linked to ABO blood group locus.[rxpgonline.com]
  • Epidemiology Frequency United States Nail-patella syndrome has been recognized for more than 100 years. It has an estimated prevalence of 1 per 50,000 live births. International Nail-patella syndrome has been described in multiple populations.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.com]
  • Pathophysiology The complete pathophysiology underlying NPS is not known. Probably, the musculoskeletal abnormalities are involved with synthesis, assembly, or degradation collagen disorder.[rxpgonline.com]
  • Other Names for Nail Patella Syndrome Fong disease Hereditary onycho-osteodysplasia Hereditary osteo-onychodysplasia Osterreicher syndrome Pelvic horn syndrome Turner-Kieser syndrome Pathophysiology and Genetics The LMX1B gene is a transcription factor[boneandspine.com]
  • Heterozygous loss-of-function mutations in LMX1B cause nail-patella syndrome. [5, 6] Pathophysiology Although the joint anomalies in nail-patella syndrome may limit range of motion (ROM), the associated glaucoma and nephropathy may be the most serious[emedicine.medscape.com]

Prevention

  • Seite 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.de]
  • 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]
  • Management must be done in order to prevent and treat the renal complications. A multidisciplinary approach must be done, including Pediatrics, Nephrology, Orthopedics, Rheumatology, and Psychology.[rxpgonline.com]
  • First, it may help prevent osteoarthritis of the lateral compartment.[healio.com]
  • Early detection of elevated intraocular pressure and appropriate treatment may prevent the nerve or retinal damage. Lester sign is a hyperpigmented, irregular ring in the iris may be noted.[boneandspine.com]

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