Popliteal pterygium syndrome: case report from rural India

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is also known as faciogenitopopliteal syndrome. It is autosomal dominant disorder. It has highly variable expressivity and incomplete penetrance. The incidence of the popliteal pterygium syndrome is 1/300000, which makes it an extremely rare condition. The most striking characteristic of this syndrome is popliteal pterygium, which consists of a net of connective tissue spreading from the ischial tuberosity to the calcaneus.In this study, authors present the case of a 1 day old male patient with cleft upper lip, cleft palate, bifid scrotum, popliteal pterygium and congenital talipes equinovarus (CTEV).

Apert Syndrome with Epibulbar Dermoid Cyst in the Eye - Coincidence or an Additional Clinical Finding: A Case Report.

Craniosynostosis are heterogeneous group of syndromes characterized by premature fusion of suture that may occur alone or together with other anomalies. Apert syndrome, an autosomal dominant disorder, first described by Baumgartner in 1842, accounts for 4.5% of all children with craniosynostosis. We report a case of a 5-year-old female child who presented with complaints of inability to speak, facial dysmorphism and symmetric syndactyly of both hands and feet.

Spinal Cord Ependymoma Associated with Neurofibromatosis 1 : Case Report and Review of the Literature

Patients with neurofibromatosis 1 (NF1) are predisposed to develop central nervous system tumors, due to the loss of neurofibromin, an inactivator of proto-oncogene Ras. However, to our knowledge, only three cases of ependymomas with NF1 have been reported in the literature. The authors present a case of NF1 patient with a spinal cord ependymoma. She was referred for about half a year history of increasing numbness that progressed from her fingers to her entire body above the bellybutton. Magnetic resonance imaging revealed a relative-demarcated, heterogeneously enhanced mass lesion accompanied by perifocal edema in C5-7 level, a left-sided T11 spinous process heterogeneously enhanced mass in soft tissue, intervertebral disk hernia in L2-5 level, and widespread punctum enhancing lesion in her scalp and in T11-L5 level. The patient underwent C5-7 laminectomies and total excision of the tumor under operative microscope, and intraoperative ultrasonography and physiological monitoring were used during the surgery. Histopathologically, her tumor was found to be a ependymoma without malignant features (grade II in the World Health Organization classification). Therefore, no adjuvant therapy was applied. Following the operation, the patient showed an uneventful clinical recovery with no evidence of tumor recurrence after one year of follow-up.

Facioscapulo Humeral Muscular Dystrophy.

Facioscapulo humeral muscular dystrophy (FSHD) is a rare type of myopathy and differs clinically and genetically from Duchenne muscular dystrophy. It is an autosomal dominant disorder and as the name designates it has the characteristic distribution of the weakness. The face is almost always affected. Progression of the disease is slow and symptoms begin in adolescence but signs may be evident in children. We present a case of facioscapulo humeral muscular dystrophy in a 14 year old girl & the case was sporadic in nature.

Clinical and X-ray Features of Nail-Patella Syndrome:A Report of 6 Cases with Literature Review / 实用放射学杂志

Objective To improve the recognition of nail-patella syndrome(NPS). Methods The pathological,clinical and x-ray features of NPS in 6 cases were analysed with literature reviewed. Results The main diagnostic features of NPS included:(1)There were nail dysplasia and family history;(2) The pathological changes were bilateral,multiple bone and multiple systems involved;(3) Patients had a characteristic tetrad involving the nails,knees,elbows and the presence of iliac horns. Conclusion Based on the typical x-ray findings combined with clinical characteristics,nail-patella syndrome can be suggested.Radiography is one of the best methods for the diagnosis of this disease.