Recurrence rates are higher than for abdominal repair, 16-30%, but more recent studies give lower recurrence rates. Additional levatorplasty can reduce recurrence rates to 7%.Delorme Procedure
This is a modification of the perineal rectosigmoidectomy, differing in that only the mucosa and submucosa are excised from the prolapsed segment, rather than full thickness resection. The prolapse is exposed if it is not already present, and the mucosal and submucosal layers are stripped from the redundant length of bowel. The muscle layer that is left is plicated (folded) and placed as a buttress above the pelvic floor. The edges of the mucosal are then stitched back together. "Mucosal proctectomy" was first discussed by Delorme in 1900, now it is becoming more popular again as it has low morbidity and avoids an abdominal incision, while effectively repairing the prolapse. The procedure is ideally suited to those patients with full-thickness prolapse limited to partial circumference (e.g., anterior wall) or less-extensive prolapse (perineal rectosigmoidectomy may be difficult in this situation). Fecal incontinence is improved following surgery (40%–75% of patients). Post operatively, both mean resting and squeeze pressures were increased. Constipation is improved in 50% of cases, but often urgency and tenesmus are created. Complications, including infection, urinary retention, bleeding, anastomotic dehiscence (opening of the stitched edges inside), stricture (narrowing of the gut lumen), diarrhea, and fecal impaction occur in 6-32% of cases. Mortality occurs in 0–2.5% cases. There is a higher recurrence rate than abdominal approaches (7-26% cases).Anal encirclement (Thirsch procedure)
This procedure can be carried out under local anaesthetic.
Administering growth hormone, therefore, has little or no effect on the growth of the individual with primordial dwarfism, except in the case of Russell–Silver syndrome (RSS). Individuals with RSS respond favorably to growth hormone treatment. Children with RSS that are treated with growth hormone before puberty may achieve several inches of additional height. In January 2008, it was published that mutations in the pericentrin gene (PCNT) were found to cause primordial dwarfism. Pericentrin has a role in cell division, proper chromosome segregation and cytokinesis. Another gene that has been implicated in this condition is DNA2. Mutations in this gene have been implicated in Seckel syndrome. Diagnosis
Since primordial dwarfism disorders are extremely rare, misdiagnosis is common. Because children with PD do not grow like other children, poor nutrition, a metabolic disorder, or a digestive disorder may be diagnosed initially. The correct diagnosis of PD may not be made until the child is 5 years old and it becomes apparent that the child has severe dwarfism.