Hyperostotic macrodactyly

There is a rare and special type of macrodactyly that is called the hyperostotic variety. This disease occurs later than the classical forms of macrodactyly and shows massive osteocartilaginous deposits around the joints. A new case is reported. The cause of this disease could be previous trauma.     

Progressive macrodactyly.

A case of progressive macrodactyly in an adult is presented with MRI and CT imaging to illustrate the extent of the deformity.     

Middle phalangectomy: a functional and aesthetic cure for macrodactyly.

Macrodactyly is a rare congenital anomaly of the extremities. Some treatments such as debulking, epiphysiodesis, stripping or resection of the digital nerve, shortening of the fingers, amputation, and angulation osteotomy have been tried. We describe a patient with a giant digit in the hand, and present middle phalangectomy as a suitable treatment.     

Congenital supratentorial and infratentorial peripheral neurogenic tumor: a clinical, ultrastructural, and immunohistochemical study

Congenital neoplasms of the central nervous system are extremely rare, although they have been well documented since the earliest reports from the mid-19th century. Medulloblastoma, other primitive neuroectodermal tumors, and various types of gliomas have comprised the majority of cases. This report describes a highly unusual infratentorial and supratentorial tumor presenting as a scalp mass in a neonate who experienced in utero distress. The supratentorial mass extended through a defect in the skull to the parietooccipital lobe, and the infratentorial aspect involved the 9th and 10th cranial nerves in the region of the cerebellopontine angle. A complex spindle cell neoplasm incorporating peripheral nerve sheath and vascular characteristics was further characterized by electron microscopy and immunohistochemistry. Based upon these studies, the tumor was interpreted as a congenital schwannoma with divergent vascular differentiation. The child has been tumor-free for approximately 2 years after the initial operative procedure.     

Congenital pseudarthrosis of long bones: a clinical, radiographic, histologic and ultrastructural study.

Sixteen patients with pseudarthrosis of the tibia and one of the radius were evaluated clinically, radiograpically, and microscopically and separated into 3 groups; 8 had neurofibromatosis clinically, 3 had fibrous dysplasia histologically, and 6 had no evidence of either neurofibromatosis or fibrous dysplasia. Prognosis and therapy were determined by correlated clinical, radiographic, and histological observations. Fracture before age 2 years carried a poor prognosis. Electron microscopy allowed neither differentiation among these fibrous lesions, nor any clue to their origin, nor did it support the concept of a neural or vascular derivation.     

Congenital nephrosis and neonatal cytomegalovirus infection: a clinical association

This report describes an infant with congenital nephrotic syndrome and cytomegalovirus infection whose renal biopsy was consistent with the pathological diagnosis of diffuse mesangial sclerosis along with intrarenal cytomegaloviral inclusions.     

Congenital vascular lesions: clinical application of a new classification

Two hundred and ninety-seven patients with 375 pediatric vascular lesions were followed from 1967 to 1981. By history and physical examination, 96% of childhood vascular lesions can be classified as hemangiomas or malformations. Hemangiomas are often not present at birth (40%), but make their appearance during the first month. A proliferative phase, lasting an average of 3 months, is followed by a slow, but eventually complete involution. A "perfect" cosmetic result is more likely when involution is complete before age 6. Malformations are always present at birth, their growth is commensurate with the patient's, and they never involute. Analysis of clinical characteristics fails to identify a subgroup of hemangiomas destined for early involution.     

Congenital dacryocystocele: five clinical cases

Congenital dacryocystocele (CDC) is recognised as a cause of nasal airway obstruction or respiratory distress in newborns. CDC is caused by the distal obstruction of the lachrymal duct and presents as a cystic formation in the inferior meatus. We discuss five cases of dacryocystocele, together with surgical management and outcome. Endoscopic endonasal marsupialisation and appropriate postoperative care resulted in definitive recovery for all patients. In newborns or infants with nasal obstruction, CDC should be considered in the differential diagnosis, and prompt endoscopic endonasal marsupialisation is mandatory.     

Reconstruction and pathology in macrodactyly

We report a case of macrodactyly in which a finger was shortened and the nail bed and root implanted proximally using a vascularized pedicle. Electron microscopic findings showed that there was focal and segmental degeneration of myelin sheath and neurofilaments of axon.     

先天性巨指畸形的临床治疗

目的探讨先天性巨指畸形的临床治疗方法及疗效。方法1980-2006年，我院共收治29例（44指）先天性巨指畸形，均予以手术治疗。手术年龄平均为10．4岁。结果术后随访1～11年，平均5年1个月。3例巨指术后仍显臃肿，功能不理想，其余26例术后功能和外观均较理想。结论先天性巨指畸形只有通过手术治疗才有效，但应根据患者年龄、畸形程度，选择适宜的手术方式和手术时机。     

Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases

Summary. Twelve anorchid pre-pubertal and post-pubertal patients, aged between 8.5 and 41 years, were studied. The FSH and LH basal levels as well as their responses to Gn-RH (100 μg i.v.) were increased and prolonged in the post-pubertal patients. The testosterone levels were in the prepubertal range and failed to increase after HCG administration (1500 I.U. t.i.d. for 3 days).
Ultrasonography of the pelvis was performed in all the patients. Computed tomography and magnetic resonance of the abdomen were also performed in 6 and 5 patients respectively. These techniques failed to show any testicular tissue. Lastly, in 4 patients, surgical exploration confirmed the absence of testicular structure.     

Congenital hand anomalies in Japan: a family study

During the 20-year period from 1968 to 1987, 1024 patients with congenital anomalies of the hand from 1000 Japanese families were examined in our clinic. Of these patients, 204 had relatives with limb anomalies. While postaxial polydactyly showed a 33% level of familial recurrence, symphalangism and Kirner's syndrome showed about 23% recurrence, syndactyly 18%, radioulnar synostosis 9%, radial ray deficiency 8%, cleft hand 7%, and duplicated thumb 5%. None of the relatives had ulnar deficiency or symbrachydactyly.     

Pedal macrodactyly: coverage of a large defect with a rectus abdominus free flap.

The authors report a case of a unique reconstructive approach for an isolated macrodactyly of the lower extremity in an otherwise healthy African male. Surgical treatment included excision and local resection of the affected hypertrophied skin, soft tissue, and bone. A rectus abdominis free-tissue transfer and split-thickness skin graft were used for coverage of the defect. The foot healed without complication, and at 2-year follow-up, the patient had an aesthetically pleasing and fully functional result.     

True macrodactyly of the hand

A case of true progressive macrodactyly was treated by cosmetic amputation of the middle and ring fingers with defatting of the palm and dorsum of the hand. Three months later the result was satisfactory.