Cases reported "Foot Deformities"

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1/74. Progressive pedal macrodactyly surgical history with 15 year follow-up.

    Macrodactyly can affect the fingers and/or toes1. Histopathologic examination will distinguish macrodactylia fibrolipomatosis or neural fibrolipoma with macrodactyly, from macrodactylia as a part of neurofibromatosis. Surgical repair is aimed at decreasing the size of the affected foot so it is as near in size and shape to the normal foot as possible. Surgical approaches have included reconstructive surgery (usually staged debulking procedures), epiphyseal plate arrest and amputation. Repeated reconstructive surgical procedures, as illustrated in this report covering patient care over a 15 year period, are usually necessary due to recurring soft tissue and boney enlargement. ( info)

2/74. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.

    Mutations of the fibroblast growth factor receptors (FGFRs) cause several dominantly inherited congenital skeletal disorders and syndromes. Recently, these mutations have been suggested to cause either ligand-independent activation of the receptor or a dominant negative inactivation. The analysis of two Japanese patients with Pfeiffer syndrome and postaxial polydactyly of the hand now shows that both carried the same 1119-2A-to-G transition of the FGFR2 gene and this nonsense mutation caused skipping of exon 9(B) and haploinsufficiency of FGFR2. ( info)

3/74. Primary tethered cord syndrome: diagnosis and treatment of an insidious defect.

    Failure to recognize the signs and symptoms of tethered cord syndrome in patients with spina bifida occulta can result in tragic consequences. Of patients with tethered spinal cord, 35% have bowel and/or bladder dysfunction. scoliosis, foot or leg length discrepancies, pes cavus, and varus or valgus deformities also can occur. Early assessment and intervention by the neuroscience nurse who is familiar with these clinical signs can help prevent significant deformities and irreversible neurological deficits. ( info)

4/74. Pedal consequences of rhabdomyolysis: a case report.

    The authors present an unusual case that has been seldom reported in the literature. The clinical rhabdomyolysis syndrome, resulting from muscle disintegration, can be the result of numerous etiologic events and have serious sequelae. The pedal manifestations result from muscular and neurologic insult. The patient in this reported case survived rhabdomyolysis despite renal and hepatic failure requiring diuresis and hemodialysis. The only permanent long-term sequelae the patient suffered was flexible hammertoe deformities and parasthesias of all lesser digits of both feet. The follow-up is over 8 years. ( info)

5/74. Congenital dislocation of the patella. Part II: orthopaedic management.

    Five patients (eight knees) with diagnosed congenital dislocation of the patella and well-documented charts were reviewed. Age at diagnosis ranged from 4 days to 6 years. A flexion contracture of the knee and femorotibial rotatory dislocation of varying degrees were present in all the cases. The quadriceps was active in all the cases, producing knee flexion in four cases. Foot deformity was associated in all the cases (clubfoot, calcaneovalgus, or congenital vertical talus). Gradual correction of knee flexion contracture with serial casting was attempted in five cases leading to an almost complete extension in two cases. Treatment of patellar dislocation was surgical in all the cases, consisting in extensive quadriceps release (seven knees) or V-Y lengthening (one knee), division of lateral soft tissues, and reefing of the medial retinaculum and capsule. Intraoperative anomalies were recorded. At an average follow-up of 6.9 years, all the patients are able to walk on their operated limb, and the patella is centered in the trochlea in all the cases. knee mobility, rotatory dislocation, and daily function were improved in seven cases. ( info)

6/74. uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.

    We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome. ( info)

7/74. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.

    We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology. ( info)

8/74. A case of Acro-renal-mandibular syndrome in an 18 week male fetus.

    An 18 week male fetus is described with Acro-renal-mandibular syndrome. This third reported case of the syndrome is the first known male case and extends the phenotypic spectrum that characterizes the condition. ( info)

9/74. Severe terminal transverse limb reduction defects in homozygous Southeast-Asian alpha-thalassaemia-1.

    A rare occurrence of a homozygous a-thalassaemia fetus with severe terminal transverse limb reduction defects involving all limbs is reported. When prenatal testing, either by dna analysis or haemoglobin electrophoresis, indicating a fetus with homozygous alpha-thalassaemia, a complete sonographic survey of fetal limbs is mandatory, and terminal transverse limb reduction defects should be included in genetic counselling prior to in utero fetal therapy. ( info)

10/74. fibroma of a tendon-sheath presenting as toe deformity.

    We describe a rare manifestation fibroma in a tendon-sheath in an 83-year-old man. The patient complained initially of a slowly progressive spreading, apart of the right second and third toes. A mass was found in the plantar aspect of the foot. It was completely excised at surgery. Histological examination revealed sparse spindle or stellate cells with slit-like vessels in the dense collagenous matrix. There had been no recurrence at follow-up 17 months after surgery. ( info)
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