Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a curious, waddling gait or arising lower limb deformities. … Patients with pseudoachondroplasia present with gait abnormalities, lower limb deformity, or a retarded growth rate that characteristically appear at age 2-3 years. … deformities, and the surgical treatment of scoliosis.[1]
Spinal muscular atrophies are a group of neurodegenerative disorders in which genetic mutations lead to progressive damage of motor neurons in the spinal cord. Type 1 is most severe, with a very early onset of numerous symptoms that lead to death within the first few years of life in the vast majority of cases.…[2]
Maffucci syndrome is a rare congenital nonhereditary disease consisting of the development of multiple enchondromas, hemangiomas and, less commonly, lymphangiomas. Enchondromas have a potential for malignant transformation and cause bone deformation, shortening, and fractures, while hemangiomas may cause severe…[3]
The thrombocytopenia-absent radius syndrome, a rare medical entity, is distinguished by bilateral aplasia of the radius on both arms and thrombocytopenia. Additional anomalies include congenital heart disease, agenesis of the genitourinary system, skeletal abnormalities of the lower limbs and the axial skeleton, as well…[4]
Miller-Dieker syndrome is a rare disorder with contiguous gene deletion that is characterized by lissencephaly, distinct facial and other congenital anomalies. It is associated with seizures, mental delay, and early death. Miller-Dieker syndrome (MDS), is a disorder with abnormal neuronal migration during brain…[5]
Enchondromatosis is a term encompassing several disorders distinguished by the formation of multiple cartilaginous benign tumors, enchondromas. Ollier disease and Maffucci syndrome are the two most important forms of enchondromatosis, and symptoms, when present, include the presence of palpable bony masses in…[6]
Spinal muscular atrophy is a genetic disorder characterized by progressive muscular weakness. The different types of spinal muscular atrophy may present differently but clinical symptomatology may be similar to some extent. The following system-wise presentation is commonly in seen in SMAs: General Appearance:…[7]
Liposarcoma is a rare malignancy of fat cells. It occurs especially in the retroperitoneal tissues and the thigh. The following are the signs and symptoms of liposarcoma: A slow growing lump beneath the skin that grows slowly and is firm to touch and painless Fatigue Weight loss Abdominal pain and cramps Nausea and…[8]
Heparin-induced thrombocytopenia (HIT) is an adverse drug reaction associated with thrombocytopenia and a high risk for thrombosis. In contrast to other drug-induced thrombocytopenia, significant spontaneous bleeding is rare with HIT even when thrombocytopenia is severe. This makes the diagnosis of HIT very…[9]
Hereditary angioedema type II is a genetic disorder in which synthesis of dysfunctional C1-esterase inhibitor results in angioedema, abdominal pain, and erythema marginatum. The clinical presentation is identical to HAE type 1. Angioedema, defined as sudden onset of edema involving the subcutaneous tissues of the…[10]