The association of a dysmorphic pelvis, absence of pubic rami, hip dysplasia, and genitourinary anomalies.

BACKGROUND: There have been reports of children who had absence of the pubic rami, hip dysplasia, and genitourinary anomalies. CASE REPORT: We describe a 44-year-old woman with severe hip dysplasia, bilateral chronic congenital hip dislocations, abnormal development of the entire pelvis, and absence of the pubic rami in association with absence of the uterus. CONCLUSION: We present an individual who has abnormal development of the entire pelvis, including absence of the pubic rami, and genitourinary anomalies. We suggest that this is a rare pattern of associated anomalies confined to a localized region of the body. Potential underlying developmental abnormalities include somatic mutations which affected the mesodermal cells from which the pelvis and mullerian structures develop.

Van neck disease: osteochondrosis of the ischiopubic synchondrosis.

BACKGROUND: Van Neck disease (VND) is a benign skeletal abnormality of children involving a hyperostosis of the ischiopubic synchondrosis (IPS) seen on radiographs. Patients typically complain of vague groin or buttock pain. Few descriptions of this disorder exist and it easily can be mistaken for other entities, particularly osteomyelitis or tumor. It is often considered a diagnosis of exclusion as laboratory values are usually normal and routine radiographic workup may be nonspecific. We present a series of patients with VND and we compare them with a similar cohort of patients with acute hematogenous ischiopubic osteomyelitis (IPOM). We also draw attention to a new magnetic resonance imaging (MRI) finding that seems to support the theory that VND results from an excessive pull of the hamstring tendon on the ischial tuberosity. METHODS: All patients presenting to our institution for the evaluation of groin or buttock pain during an 8-year period (August 2001 to May 2009) were retrospectively identified. Twenty-five patients demonstrated enhancement of the ischiopubic area on MRI. Five patients were excluded for lack of sufficient laboratory data. Ten patients were diagnosed and treated with culture proven IPOM and 10 patients were diagnosed with VND and treated with observation. History, physical examination, laboratory values, plain films, and MRI were compared to identify the diagnostic differences between these 2 entities. RESULTS: The age range for both groups was between 4 and 12 years old. The mean age was 7 years for the VND group and 7.6 years for the IPOM group. The VND group tended to have more distinct hyperostosis of the IPS on radiographs. The factors that were characteristic of IPOM were: fever, limp, pain with rotation of the hip, elevated erythrocyte sedimentation rate, elevated C-reactive protein (CRP), and positive blood culture. MRI showed obvious myositis, abscess, and free fluid surrounding the IPS in all patients with IPOM, but not in the VND patients. Enhancement was seen in the ischial tuberosity, near the hamstring origin, in nearly all Van Neck patients; this pattern of edema may support stress reaction and callus formation as a mechanism for IPS hypertrophy. CONCLUSIONS: VND is a little-known entity characterized by enlargement of the IPS and should be in the differential of groin or buttock pain in children from the age of 4 to 12 years. IPOM may present similar to VND. Absence of fever, limp, pain with rotation of the hip, elevated C-reactive protein/erythrocyte sedimentation rate, and negative blood culture can help to differentiate VND from IPOM. Presence of marrow edema around the IPS and in the ischial tuberosity, along with absence of surrounding myositis, abscess, and free fluid on MRI are reliable findings that can confirm the diagnosis of VND. The absence of these characteristics can eliminate the need for admission, aspiration, or biopsy. The treatment for VND is observation and the symptoms should abate over time with expectant management. LEVEL OF EVIDENCE: Comparative Diagnostic, Level IV.

[New methods of pubic approximation in extrophy of the bladder in children].

A new less traumatic method of pubic bone approximation in extrophy of the urinary bladder in children is proposed. To ascertain efficacy of the method, results of 3-stage reconstructive plastic operations with pubic bone approximation without osteotomy (group 1, n=27), one-stage reconstructive plastic operations with transversal suturing of the anterior abdominal wall (group 2, n=19), and one-stage reconstructive plastic operations according to the new techniques of pubic bone approximation (group 3, n=9) were compared. To receive satisfactory results, 27 patients of group 1 had to undergo 97 operative interventions for complications, 19 patients of group 2 had undergone 33 operative interventions. As to group 3, early postoperative period complications such as urethrocutaneous and vesicocervical fistulas were observed only in 22.2% cases. Pubic bone diastasis was observed in none the cases showing 100 efficacy.

Bilateral loss of inferior pubic rami: a case report.

We are reporting a rare case on a fourteen years old girl who presented with a vague abdominopelvic pain and frequent complaints of urinary symptom of hesitancy since her early childhood. The bilateral loss of the inferior pubic rami is a very rare clinical and congenital abnormality as evidenced by the world literature. This is the first ever reported case in an Ethiopian subject.

Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex.

The exstrophy-epispadias complex represents a spectrum of genitourinary malformations ranging from simple glanular epispadias to an overwhelming multisystem defect, cloacal exstrophy. Neonatal total reconstruction of bladder exstrophy-epispadias complex is the treatment of choice. An adult patient presenting with untreated exstrophy is very rare. Malignant transformation, commonly adenocarcinoma, in such cases is a known complication due to mucosal metaplasia of urothelium. Management in such cases necessitates a radical surgical procedure that often results in a massive defect in the anterior abdominal wall. Providing a cover for such defects is a challenging task for the reconstructive surgeon. Local skin flaps and wide mobilisation of the rectus muscle are the usually employed techniques for closure of such defects. However, these may be inadequate in extremely large defects such as those encountered in our patients. We, hereby, describe our technique of closure of the abdominal wall defect using a pedicled anterolateral thigh flap.

Pubic ramus radiolucencies in infants: the good, the bad, and the indeterminate.

OBJECTIVE: The purpose of this study was to examine imaging findings that differentiate inflicted injuries from developmental variants of the superior pubic ramus in healthy and abused infants. CONCLUSION: A superior pubic ramus fracture and a developmental variant can be difficult to differentiate radiographically. A smoothly marginated vertical radiolucency of the superior pubic ramus detected without other features suggesting infant abuse should not be interpreted as a fracture.

Synostosis between pubic bones due to neurogenic, heterotopic ossification.

Neurogenic, heterotopic ossification is characterised by the formation of new, extraosseous (ectopic) bone in soft tissue in patients with neurological disorders. A 33-year-old female, who was born with spina bifida, paraplegia, and diastasis of symphysis pubis, had indwelling urethral catheter drainage and was using oxybutynin bladder instillations. She was prescribed diuretic for swelling of feet, which aggravated bypassing of catheter. Hence, suprapubic cystostomy was performed. Despite anticholinergic therapy, there was chronic urine leak around the suprapubic catheter and per urethra. Therefore, the urethra was mobilised and closed. After closure of the urethra, there was no urine leak from the urethra, but urine leak persisted around the suprapubic catheter. Cystogram confirmed the presence of a Foley balloon inside the bladder; there was no urinary fistula. The Foley balloon ruptured frequently, leading to extrusion of the Foley catheter. X-ray of abdomen showed heterotopic bone formation bridging the gap across diastasis of symphysis pubis. CT of pelvis revealed heterotopic bone lying in close proximity to the balloon of the Foley catheter; the sharp edge of heterotopic bone probably acted like a saw and led to frequent rupture of the balloon of the Foley catheter. Unique features of this case are: (1) temporal relationship of heterotopic bone formation to suprapubic cystostomy and chronic urine leak; (2) occurrence of heterotopic ossification in pubic region; (3) complications of heterotopic bone formation viz. frequent rupture of the balloon of the Foley catheter by the irregular margin of heterotopic bone and difficulty in insertion of suprapubic catheter because the heterotopic bone encroached on the suprapubic track; (4) synostosis between pubic bones as a result of heterotopic ossification.. Common aetiological factors for neurogenic, heterotopic ossification, such as forceful manipulation, trauma, or spasticity, were absent in this patient. Since heterotopic bone formation was observed in the pubic region after suprapubic cystostomy and chronic urine leak, it is possible that risk factors related to the urinary tract might have played a role in heterotopic bone formation, which resulted in synostosis between pubic bones.

Aplasia of the pubic bone in conjunction with hip dislocation.

We describe here unilateral left hip dislocation in a 2-year-old child in conjunction with ipsilateral absence of the pubic bone. He was admitted to our hospital at 1 year of age and diagnosed with teratogenic dislocation of the left hip, aplasia of the left pubic bone, an undescended palpable left testicle and hypospadias. We performed open reduction through an anterior approach with preliminary skin traction for 1 week and spica cast for 3 months. The acetabular index was high both on admission and in the last radiographic control. Computerized tomography demonstrated dysplasia of the acetabulum and absence of the pubic bone. We concluded that the congenital absence of the left pubis was the major cause of the residual acetabular dysplasia. To our knowledge the conjunction of hip dislocation, aplasia of pubic bone and genitourinary anomalies has not been reported in the orthopaedic literature previously.

Relevance of discrete traits in forensic anthropology: From the first cervical vertebra to the pelvic girdle.

In forensic anthropology, identification begins by determining the sex, age, ancestry and stature of the individuals. Asymptomatic variations present on the skeleton, known as discrete traits, can be useful to identify individuals, or at least contribute to complete their biological profile. We decided to focus our work on the upper part of the skeleton, from the first vertebra to the pelvic girdle, and we chose to present 8 discrete traits (spina bifida occulta, butterfly vertebra, supraclavicular nerve foramen, coracoclavicular joint, os acromiale, suprascapular foramen, manubrium foramen and pubic spine), because they show a frequency lower than 10%. We examined 502 anonymous CT scans from polytraumatized individuals, aged 15 to 65 years, in order to detect the selected discrete traits. Age and sex were known for each subject. Thin sections in the axial, coronal and sagittal planes and 3D volume rendering images were created and examined for the visualization of the selected discrete traits. Supraclavicular foramina were found only in males and only on the left clavicle. Coracoclavicular joints were observed only in males. The majority of individuals with a suprascapular foramen were older than 50 years of age. Pubic spines were observed mostly in females. Other traits did not present significant association with sex, age and laterality. No association between traits was highlighted. Better knowledge of human skeletal variations will help anthropologists come closer to a positive identification, especially if these variations are rare, therefore making them more discriminant.

Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.

We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.

Atresia ani with diphallus and separate scrota in a calf: a case report.

Atresia ani, a common genetic defect in animals, is often accompanied by urogenital defects in calves. This paper reports a case of atresia ani with diphallus and separate scrota in a calf. The calf was born with atresia ani; surgery (to open the anus) was performed 3 days after birth. No urogenital abnormalities were noticed until 4 months after birth. At that time, two separate scrota (each containing a testis) and a sac-like structure in the middle of two scrota, were visible. The gait was abnormal, with abduction of the hind limbs while walking. Additionally, the hind legs appeared wider than usual at the hip joints. Two weeks later, two peni (diphallia) was observed, each in a separate preputial sheath. The calf had a normal karyotype on cytogenetic examination. Plasma concentrations of testosterone at 5.5, 6, and 7 months of age were 3.5, 1.9, and 1.7 ng/ml, respectively. At necropsy (7 months of age), the prepuce was thick and the glans of the right penis was adhered to the prepuce. The left penis did not have a urethra or retractor penis muscles. The sac-like structure in the middle of the two scrota contained the urinary bladder and a loop of small intestine. The pubic bone had failed to fuse at the pelvic symphysis. In conclusion, this is the first reported case of atresia ani with diphallus, separate scrota, and pubic bone separation in a calf.

Ischiopubic hypoplasia: a rare constituent of congenital syndromes.

Hypoplasia of the ischiopubic region is described in four patients. An adolescent was referred for spinal dysraphism and scoliosis, another one for bilateral aplasia of the patella and scoliosis, and finally two children were treated for congenital dislocation of the hip. The osseous malformation of the ischiopubic bones was not associated with any other intrapelvic disorders, and remained unchanged until skeletal maturity. The appearance of this extremely rare anomaly is usually reported as a syndromic constituent of a limited number of congenital malformation syndromes that can be widened to include congenital dislocation of the hip.

Developmental dysplasia of the hip associated with aplasia of the pubic bone (hook-pelvis): report of a case and review of the literature.

Aplasia of the pubic bone associated with congenital hip dislocation is rare. Various dysmorphic conditions featuring absence or hypoplasia of the ischiopubic bone, associated with congenital hip dislocation, have been distinguished in the literature. We report the case of an 18-month-old boy with developmental dysplasia of the hip associated with isolated total aplasia of the pubic bone. Patient was successfully treated with modified Salter osteotomy and reverse U-shaped capsuloplasty.

Isolated congenital absence of inferior pubic rami ossification: a case report.

Previously reported cases of congenital absence of the pubic rami have been associated with urogenital and musculoskeletal anomalies. Presented here is the case of an 11-year-old female who presented to the outpatient clinic and was incidentally found to have absence of inferior pubic rami ossification in the setting of otherwise normal pelvic, genitourinary, and musculoskeletal development. Radiographic, computed tomography, and MRI studies are shown and demonstrate normal musculoskeletal anatomy and a cartilaginous anlage in the location of the inferior pubic rami. Isolated absence of inferior pubic rami ossification can be present in an otherwise typically developing child with normal function.

Shortened pubic bones in bladder exstrophy: a congenital or acquired phenomenon?

OBJECTIVE: It is accepted that the length of the anterior segment of the pelvis in classic bladder exstrophy is shorter than that of controls. However, studies performed involve children with a wide range of ages. By studying children with classic bladder exstrophy under the age of 1 year, the authors aim to ascertain if there is a congenital pubic bone length discrepancy associated with bladder exstrophy. MATERIAL AND METHODS: Fourteen classic bladder exstrophy patients under 1 year of age and 14 age-matched controls were identified. Three-dimensional (3D) computerized tomography was used to measure the length of the superior pubic ramus bilaterally. In the exstrophy group, scans were performed before bladder closure. The Mann-Whitney U test was used and p < 0.05 was considered significant. RESULTS: There was no significant difference (p = 0.76) in the median age in cases (72 days) and controls (64 days). The median superior pubic ramus length was 19.1 mm in the exstrophy group and 20 mm in the control group (p = 0.99). CONCLUSIONS: Superior pubic ramus length in children under 1 year of age with classic bladder exstrophy is not statistically different from that in control subjects. Therefore, the authors hypothesize that the previously described shortening of the pubic bones is an acquired phenomenon, which may develop after the first year of life.