Echographic Findings Research Articles

High resolution scintimammography helps in differentiating benign from malignant findings in scintigraphic hot spots

Several efforts have been focusing on the development of detectors devoted to high solution 99mTc sestamibi scintimammography to improve sensitivity for non palpable lesions. To this aim new high resolution scintillation gamma camera was developed under the “Integiated Mammographic Imaging” project. The gamma camera, made by CAEN and Pol.Hi.Tech, has an overall dimension of 112×120×75mm3. It consists of an array of 1 in. PSPMTs Hamamatsu H8520-C12 closely packed, a NaI(T1) scintillation array (1.8×1.8×6mm 3 pixel) and a general purpose collimator. By this gamma camera a clinical experience on a few patients with breast cancer suspicion was performed. In this paper we show how high resolution approach allows to better categorize the lesions on the basis of the morphology of the spatial distribution of the radiotracer in the breast tissue. By comparing conventional and high resolution images of a young patient (29 y.o.) with breast cancer suspicion, it appears clear how the Anger, camera images showed a defined hot spot, highly suggestive of malignant lesion; on the contrary, the high resolution scan shown a large and inhomogeneous uptake area with the absence of clear and focal character of the uptake, to be considered as a probably non malignant lesions. This resuh was confirmed by byoptical findings that diagnosed the echographic findings as a benign inflammatory lesion.

Aortic valve-sparing operation and a total arch replacement by an elephant trunk method for Marfan’s syndrome with aortic regurgitation and a DeBakey type IIIb dissection

A 35 year-old male with Marfan's syndrome was referred with a fortuitous echographic finding of an abdominal aorta flap. Transthoracic echocardiography showed moderate aortic regurgitation and an aneurysm in the sinus of Valsalva. Computed tomography demonstrated an aneurysm in the sinus of Valsalva 60 mm in size and a DeBakey type IIIb dissection extending from the left subclavian artery to the right common iliac artery. An aortic valve-sparing operation (reimplantation), total aortic arch replacement and the elephant trunk method were used in this patient. An aortic valve-sparing operation is preferable because the patient is young, and has no need for anticoagulant therapy after surgery. The extent of the aortic reconstruction, including the intact aortic arch, was appropriate to prohibit future dilatation of the aortic arch and retrograde dissection from a DeBakey type IIIb dissection.

P03.12: Linear insertion of the atrioventricular valves (LIAVV) without defect in trisomy: a new anatomical series of 243 new hearts

On an anatomical series of 52 hearts of trisomic 21 fetuses published in June 2002, we described a new minor cardiac anomaly belonging to the atrioventricular septal defect spectrum. It consists in a linear insertion of the atrioventricular valves (LIAVV) without defect instead of the normal offsetting. We wanted to confirm these data on a prospective series of 243 hearts of trisomic 21 fetuses compared to 100 normal hearts of normal fetuses. We added a complementary section, apex to the inferior pulmonary veins, to the standard examination. 100% of controls showed a normal offsetting of the atrioventricular valves. At the standard examination 127 out of 243 hearts of trisomic 21 fetuses (52%) showed a so called ‘‘normal’’ heart. Out of these 127 hearts, the complementary section showed a linear insertion, without offsetting and without any septal defect in 64%. Finally, only 19% of the 243 hearts of trisomic 21 were really normal with had a normal offsetting. This linear insertion, already observed in all the different types of atrioventricular septal defects(AVSD) is considered as a good hallmark for trisomy 21; but, since then, it has always been described associated with a defect. Our results confirm that the LIAVV without defect is a minor form of the AVSD spectrum, taking place between the prior described partial types of AVSD, which always have a defect, and the very normal heart. These findings induced a prospective echographic study comparing the echographic findings to the anatomical data in order to improve the scan screening of the trisomy 21.

Isolated Home Hypertension in the Morning is Associated with Target Organ Damage in Patients with Type 2 Diabetes

To investigate the relationship between the blood pressure control level and cardiovascular risk in type 2 diabetic patients, we evaluated home blood pressure, office blood pressure, biochemical data, and carotid echographic and echocardiographic findings in 148 patients with type 2 diabetes. According to the criteria for hypertension in the guidelines of the Japanese Society of Hypertension, we classified patients into a normotensive group with home systolic blood pressure in the morning (morning HSBP)<135 mmHg and office systolic blood pressure (OSBP)<140 mmHg, an office hypertension group with a morning HSBP<135 mmHg and OSBP>or=140 mmHg, an isolated home hypertension in the morning group with morning HSBP>or=135 mmHg and OSBP<140 mmHg, and a sustained hypertension group with morning HSBP>or=135 mmHg and OSBP>or=140 mmHg. In the isolated home hypertension in the morning group, the fasting insulin level, urinary albumin excretion, maximum carotid artery intima-media complex thickness, and left ventricular posterior wall thickness were significantly higher and the coefficient of variation for RR intervals was significantly lower than in the normotensive group. These results suggest that isolated home hypertension in the morning is a risk factor for target organ damage in type 2 diabetic patients.

LH-RH agonists offer very good protection against the adverse gynaecological effects induced by tamoxifen

This study was initiated to evaluate the efficacy of luteinizing hormone-releasing hormone (LH-RH) agonists in protecting premenopausal patients against the adverse gynaecological effects induced by tamoxifen. Between January 1998 and January 2000, 85 premenopausal breast cancer patients were included in this prospective study. All were to receive LH-RH agonists and tamoxifen for a minimum of two years. All patients underwent a pretreatment gynaecological evaluation and annual follow-up. Bone density was also measured at the start of treatment and then after 2, 3 and 4 years. Pretreatment evaluation revealed 2 polyps. At one and two years of follow-up, no abnormal symptoms were noted and echographic findings were normal. At three years of follow-up, a polyp associated with adnexal masses was discovered. Histology revealed ovarian and endometrial metastases of infiltrating lobular breast carcinoma. Bone density evaluation after 2, 3 and 4 years of treatment showed no significant bone loss. LH-RH agonists offer safe protection against the gynaecological side-effects of tamoxifen in premenopausal breast cancer patients.

Childhood idiopathic hypercalciuria

To evaluate the clinical significance of renal calyceal microlithiasis (RCM) in children with idiopathic hypercalciuria (IHC). RCM is a renal echographic finding defined as the presence of hyperechogenic spots < 3 mm in diameter in the renal calyces. These spots have been associated with the presence of nephrourological symptoms in children and are considered to represent a stage prior to urolithiasis. We reviewed the medical records of 103 children (63 girls, 40 boys; age range 1-14 years; mean age 6.57 years) referred for various complaints who had IHC. Renal echography was routinely performed. At diagnosis, 52 children had RCM, 35 showed normal echography, 14 had calculi and two presented nephrocalcinosis. A long-term follow-up study was carried out to compare the clinical manifestations, analytic data and renal echographic findings of patients with RCM and those with normal echography. The clinical manifestations and the results of biochemical studies did not differ significantly between the two groups. Renal sonographic findings during the follow-up period revealed that, of patients with initial RCM, 35 showed normalized sonographic findings, two developed calculi and 36 developed recurrent RCM. Of the children with normal initial echography, 17 developed RCM and three developed calculi. The risk of developing lithiasis was less in children with RCM than in those with normal initial renal echography (0.04 vs 0.09), the relative risk being 0.45 (95% CI 0.08-2.55). The clinical and analytic differences between the group of 14 children with initial lithiasis and the other two groups previously described were also analyzed and no significant differences were found. An ongoing echographic study of these patients showed that the echograph was normalized in 10 children at some point or other, while seven developed RCM (four unilateral, three bilateral). In 13 cases the lithiasis reappeared, and the relative risk of recurrent lithiasis compared with those who initially showed no lithiasis was 16.16 (CI 95% 6.81-38.31). Our results indicate that up to 85% of children with IHC presented RCM in follow-up sonographies. This echographic finding, which may appear and disappear at different points during follow-up, does not seem to indicate an increased risk of lithiasis.

Relationship of Echographic Findings With Visual Outcomes in Post-Cataract Surgery Endophthalmitis

Preoperative ultrasonography in postoperative endophthalmitis was correlated with outcome following vitrectomy. Final visual acuity <20/400 in 14% of eyes with mild/moderate vitreous opacities vs. 67% with dense vitreous opacities. More virulent isolates were found in 67% of eyes with dense opacities vs. 9% with mild/moderate opacities. Dense vitreous debris on ultrasonography was associated with infection by virulent organisms and poorer outcome.

Liver and splenic sarcoidosis: Diagnostic procedures

Clinical studies indicate involvement of the liver and spleen in approximately 20-30% of patients affected with sarcoidosis and their detection should be based on a standardized diagnostic procedure. Ultrasonography is a reliable and safe method to assess changes related to size and structure of the affected organs that are pathognomonic for sarcoidosis. Further evaluation may include computerized tomography or magnetic resonance, while percutaneous needle aspiration biopsy or laparoscopy may also be applied when indicated. The most important criterion used for final diagnosis is pathohistological evidence of epithelioid noncaseating granuloma in bioptic material along with already established sarcoidosis of the lungs or some other organ. The study on the incidence of liver and spleen sarcoidosis included a group of 130 patients affected with sarcoidosis hospitalized at the Institute of Pulmonary Diseases and Tuberculosis, Clinical Center of Serbia, over the period 2002-2003. The analysis evidenced that 31.5% of sarcoidosis patients had pathognomonic echographic findings of abdominal organs: splenomegaly (13%), hepatomegaly (10.8%) and hepatosplenomegaly (7.7%). Three patients underwent surgical treatment of liver and spleen sarcoidosis. Pathognomonic findings of liver and spleen sarcoidosis were evidenced in approximately one third of sarcoidosis cases and they represented a significant parameter for further therapy, particularly in chronic patients.

Ecografía en el diagnóstico de la candidiasis renal neonatal

ObjectiveTo describe the most pertinent echographic findings regarding systemic and renal candidiasis in high-risk neonates. Materials and methodsEchographic findings and clinical histories of 40 neonates in the neonatal intensive care unit were retrospectively analyzed. Thirty-eight presented systemic candidiasis with renal participation, while two showed only renal candidiasis. Ultrasound scans were performed using 7.5 MHz probes. Alterations in renal echostructure, presence of echogenic material without acoustic shadowing in the excretory system (mycetomas), presence of lithia-sis, pyonephrosis and associated renal malformations were all evaluated. ResultsTen patients presented renal alterations in ultrasound scan. Six children had originally shown increased echogenicity in the renal parenchyma which was resolved after medical treatment. Four children presented renal mycetomas, and in two there were renal malformations. Both of these exhibited a profile for pyonephrosis. One patient with renal mycetomas without urological abnormalites developed a lit-hiasis. Surgical intervention was unnecessary in all cases. ConclusionThe most common echographic findings in immature high-risk low-weight patients with systemic and renal candidiasis were alterations in the echogenicity of renal parenchyma and the presence of mycetomas.

Effect of posture on echographic examination for dialysate in patients treated with chronic ambulatory peritoneal dialysis as a model of ascites

We evaluated the effect of posture on echographic examination for dialysate in 15 patients treated with chronic ambulatory peritoneal dialysis as a model of ascites. After gradually infusing 500 1000 and 1500 ml dialysate into their abdominal cavity, we compared echographic findings of infused fluids in dorsal, knee–elbow, and standing positions. The height of fluid in the standing position was largest and the width of fluid in Morison's pouch in the dorsal position was smallest. When calculating the volume of the infused fluid by modeling as an elliptic cone in the standing position or as a segment of a sphere in the knee–elbow position, the correlation coefficients between the calculated volumes and the infused volumes were 0.979 ( P<0.0001) in the knee–elbow position and 0.920 ( P<0.0001) in the standing position, respectively. Patients and examiners were required to endure an unnatural and awkward posture in the knee–elbow position. These findings suggest that echographic examination in the standing position is an easy and accurate method for the diagnostic paracentesis and the measurement of the volume of ascites in this model.

Malignant teratoid medulloepithelioma: Clinical-echographic-histopathologic correlation

Introduction: Medulloepithelioma is a rare congenital intraocular neoplasm. The authors describe a case involving a 6-year-old girl who presented with leukocoria and an inflamed red eye. The important clinical and histopathologic features of this condition are reviewed in correlation with echographic findings. (J AAPOS 2001;5:395-7)

The COMS Randomized Trial of Iodine 125 Brachytherapy for Choroidal Melanoma, II: Characteristics of Patients Enrolled and Not Enrolled

To describe characteristics of patients evaluated for the Collaborative Ocular Melanoma Study (COMS) randomized clinical trial of iodine 125 brachytherapy for choroidal melanoma by enrollment status, and to compare characteristics of patients enrolled with those of patients with tumors of eligible size who did not enroll in order to assess the extent to which findings from the clinical trial can be generalized to future patients. For all patients diagnosed with choroidal melanoma and evaluated for the clinical trial at COMS centers from November 1986 through July 31, 1998, selected data were transmitted to the COMS Coordinating Center, Baltimore, Md, where they were integrated and analyzed. Data included ophthalmic and medical history, examination findings, and visual acuity measurements recorded prior to enrollment; standardized A- and B-scan echographic examination findings; and wide-angle fundus photographs and fluorescein angiograms. Of 8712 patients with choroidal melanoma, 5046 had tumors of eligible size; of these, 2882 (57%) were eligible for enrollment, and 1317 (46% of eligible patients, 26% of patients with tumors of eligible size) enrolled. Most differences between eligible and ineligible patients corresponded to eligibility and exclusion criteria. However, ineligible patients were older and had thicker tumors than eligible patients. Eligible patients who enrolled were slightly older and had larger tumors than those who did not enroll. Nearly half (48%) of enrolled patients had choroidal melanoma with the apex located temporal to the fovea, compared with 40% of eligible patients not enrolled and 29% of ineligible patients. This trial was designed to yield internally valid treatment comparisons through random assignment to treatment at time of enrollment. Information from this and other studies document that enrolled patients were similar to other patients with choroidal melanoma who were treated with 125I brachytherapy. These findings support the external validity of the trial and applicability of treatment findings to all patients who meet the criteria used to judge eligibility for the trial.

Sonography in acute appendicitis: diagnostic utility and influence upon management and outcome.

A study is made of the diagnostic utility of echography in clinically suspected appendicitis, and its influence upon patient management and outcome. A total of 374 consecutive patients with possible appendicitis were prospectively evaluated by ultrasound. Two groups were established: group A (high clinical probability, > or =0.70) and group B (moderate clinical probability, 0.20-0.60). In group-A patients (n = 105, 28%), prevalence of appendicitis = 0.90) underwent surgery regardless of the echographic findings. In group B (n = 269, 72%), prevalence of appendicitis = 0.28) surgery was performed in the event of positive echography, whereas negative echographic findings did not definitively discard appendicitis. The diagnostic utility of echography was evaluated by applying the Pauker-Kasirer threshold approach to clinical decision making. The influence of ultrasound upon outcome was in turn evaluated by contrasting the total appendectomized patients (190 of 374) with a series of 181 individuals subjected to appendectomy prior to the introduction of echography. The probability of appendicitis in the presence of positive echography was 0.95 in group A (sensitivity = 0.92) and 0.89 in group B (sensitivity = 0.91). The probability of appendicitis in the event of negative ultrasound was 0.58 in group A (specificity = 0.55) and 0.03 in group B (specificity = 0.95) . In 46% of cases the echographic findings led to a change in therapeutic regimen. In addition, the incidence of negative appendectomies was significantly reduced (19.3 vs 11.6% with echography; p = 0.03), as was the delay in establishing a diagnosis (under 6 h in 68.5 vs 84.2% with echography; p = 0.002) and the number of medical acts required (three in 71.3 vs 84.1% with echography; p = 0.001). There was no significant reduction in the incidence of perforated appendicitis (17.1 vs 17.9% with echography), in the number of postoperative complications (13.8 vs 7.6% with echography), or in the days of hospital stay (4.44 vs 4.80 with echography). Echography proved useful in group B, and was generally of little utility in group A. The technique had a positive influence on treatment, with management reorientation in a considerable number of patients, and on outcome, since ultrasound contributed to establishing an earlier diagnosis, with a reduction of unnecessary appendectomies.

Echographic features of medulloepithelioma

PURPOSE: To evaluate the echographic features of medulloepithelioma that may assist in establishing the diagnosis. METHODS: Retrospective review identified four eyes with medulloepithelioma studied with echography. Clinical records, echographic findings, histopathologic tumor features, and the clinical course were reviewed. RESULTS: The initial preoperative diagnosis of medulloepithelioma was uncertain, based on clinical findings alone in three cases but was accurate when echographic findings were combined with clinical findings in all four cases. Cysts posterior to the iris were detected on clinical examination in only two cases, but were revealed on echography in all four cases. Additional echographic findings included irregular high internal reflectivity (n = 4), irregular tumor surface (n = 3), molding around intraocular structures (n = 3), and internal vascularity (n = 2). CONCLUSIONS: The diagnosis of medulloepithelioma is not always apparent on clinical examination alone. Echographic findings of a highly reflective, irregularly structured tumor with associated cystic changes involving the ciliary body region may help establish a presumed diagnosis of medulloepithelioma.

High-frequency ultrasonography findings in persistent hyperplastic primary vitreous

Purpose: To identify anatomic correlates in eyes with persistent hyperplastic primary vitreous (PHPV) by using high-frequency ultrasonography. Method: Three main groups of patients were studied by means of high-frequency ultrasonography over a 19-month period. Group I included 9 eyes of 9 patients with newly diagnosed unilateral PHPV. Group II included 4 eyes of 4 patients with unilateral PHPV that had been previously surgically treated. Group III included 22 eyes and was a control group of patients without PHPV. This group consisted of the 5 contralateral normal eyes of 5 patients with unilateral PHPV in the fellow eye, both eyes of one patient with uncomplicated unilateral cataracts, the affected eye of one patient with unilateral uncomplicated cataract, the affected eye of one patient with isolated retinal coloboma, and 13 normal eyes of 7 young adults. Group I and II patients also had B-scan ultrasonography performed and had any intraoperative findings noted. Results: Characteristic features of PHPV, such as centrally dragged ciliary processes and swollen anteriorly displaced lens, were observed only in those eyes with PHPV. A new echographic finding of a double linear echo was observed in the region of the pars plana or plicata only in eyes with PHPV. This finding was confirmed intraoperatively to be consistent with a thickened adherent anterior hyaloid face and not to be an anteriorly inserted peripheral retina. Conclusion: High-frequency ultrasound can be reliably used to distinguish characteristic features of PHPV. To our knowledge this is the first such description of the use of high-frequency ultrasonography in PHPV eyes. Furthermore, the presence of a thickened adherent anterior hyaloid face may help explain the well-recognized complications of peripheral retinal tears and retinal detachments during and after surgical intervention. (J AAPOS 2000;4:217–23)

Visual acuity outcomes with and without surgery in patients with persistent fetal vasculature

Purpose To investigate visual acuity outcomes in patients with persistent fetal vasculature (PFV) left untreated or treated with vitreoretinal surgical techniques and to investigate clinical features associated with prognosis. Design Retrospective, noncomparative case series. Participants All patients with PFV examined at the Bascom Palmer Eye Institute from January 1, 1983 through December 31, 1998. Intervention All patients in the study had unilateral PFV. Of 42 PFV patients identified, 30 patients underwent vitreoretinal surgery. Indications for surgery included media opacity (e.g., cataract), vitreoretinal traction, and retinal detachment. Main outcome measures Final best postoperative visual acuity, prognostic ocular clinical features, and surgical complications. Results In the surgical group of patients, median age at diagnosis was 8 weeks, and median length of follow-up was 32 months, with all patients having at least 1 year of follow-up. Two patients had clinical and echographic findings consistent with anterior PFV, 2 patients had strictly posterior PFV, and the remaining 26 patients had components of both anterior and posterior PFV. Fourteen eyes (47%) achieved a final visual acuity of 20/400 or better at last follow-up. Risk factors for a poor visual acuity outcome (<20/400) included microphthalmia (28% of patients with microphthalmia versus 67% of patients with normal axial length achieved a final vision of 20/400 or better; P = 0.061) and preoperative retinal detachment or retinal or optic nerve abnormalities, or both, such as hypoplasia, folds, or indistinct macula with hypopigmentation (25% of patients with any of these anomalies versus 61% of patients without these findings achieved a final vision of 20/400 or better; P = 0.072). After surgery, retinal detachment developed in three eyes, chronic hypotony in two other eyes, and neovascular glaucoma in one eye. In the nonsurgical group there were 6 male and 6 female patients. Two patients with posterior PFV had minimal disease and were not considered surgical candidates, whereas 10 patients with combined anterior and posterior PFV had advanced pathologic features, and it was believed that surgery would not offer significant visual improvement; median age at diagnosis was 9.5 months, and median length of follow-up was 36 months, with all patients having at least 1 year of follow-up. At last follow-up, 3 eyes (25%) had a final visual acuity of 20/400 or better. During follow-up, retinal detachment developed in 2 eyes and chronic hypotony in an additional 2 eyes. Conclusions The current study indicates that approximately 50% of patients undergoing surgery for PFV will achieve useful vision. Visual acuity outcomes in patients with PFV are correlated with the nature and extent of ocular risk factors. Some patients may not be candidates for surgery because of either minimal changes or advanced disease that limit the potential of visual improvement.

Baisse de l'acuité visuelle après hémorragie cérébroméningée: six cas de syndrome de Terson

Objectives Description of patients with Terson's syndrome, disclosed by visual acuity impairment and due to vitreous haemorrhage close to subarachnoid haemorrhage. Observations Retrospective study of six patients (three men, three women, 41 to 51 years old) with subarachnoid haemorrhage by ruptured intracraniel aneurysms (five cases) or brain trauma (one case with intracranial haemorrhage of the temporo-parieto-occipital area). Visual acuity was reduced to hand motion or light perception, and impaired motor and cognitive recovery. The vitreous haemorrhage was on the same side of the intracranial aneurysm or subarachnoid haemorrhage in four cases, or bilateral in two. B echographic findings showed that the retina was still attached. Vitrectomy by pars plana was proposed in five patients (six eyes) ; visual acuity improved within a short time. Discussion and conclusion It is hypothesised that Terson syndrome results from retinal venous stasis secondary to a sudden increase of intracranial pressure associated with subarachnoid haemorrhage. Visual acuity impairment makes rehabilitation more difficult. Vitreous haemorrhage usually clears spontaneously within several months but visual acuity recovery is slow and some complications might occur: hemosiderosis, cataract, epiretinal membranes, retinal detachment, etc. These complications and the excessive slowness of visual spontaneous recovery that may impair motor or cognitive recovery are put forward to propose early vitrectomy, especially in case of bilateral or wide vitreous haemorrhage. Therefore, it appears necessary to examine as soon as possible visual acuity and fundus to detect and to treat Terson's syndrome in case of subarachnoid haemorrhage.

Echographic Findings in Intraocular Parasitosis

Echographic Findings in Intraocular Parasitosis

Resectoscopic treatment of uterus didelphys with unilateral imperforate vagina complicated by hematocolpos and hematometra: case report

Objective: To describe a technique for treating hematocolpos and hematometra in patients with uterus didelphys and unilateral imperforate vagina involving the use of resectoscopy under ultrasonographic control. Design: Case report. Setting: University hospital. Patient(s): A 13-year-old girl with uterus didelphys with unilateral hematometra, hematocolpos, and ipsilateral renal agenesis. The girl complained of severe abdominal pain, which appeared with each of her menses. Intervention(s): The intervention was performed by a vaginoscopic approach to preserve the integrity of the hymen. The first incision on the vaginal wall was performed in correspondence with the hematocolpos under continuous ultrasonographic guidance with the use of a straight resectoscopic loop. Resection of the vaginal septum was continued with the use of an angled resectoscopic loop until almost complete excision of the septum was achieved. Main Outcome Measure(s): Clinical, echographic, and vaginoscopic findings before the operation and 2 and 6 months after the operation. Result(s): The surgical procedure was easy to perform. Almost complete excision of the septum was achieved with just a few passages of the resectoscope. Complete drainage of both the hematocolpos and the hematometra was confirmed by ultrasonography. The postoperative period was completely uneventful. Clinical and vaginoscopic evaluations 6 months after the operation confirmed the integrity of the hymen, the complete resolution of clinical symptoms, and the persistence of a large communication between the two vaginas. Conclusion(s): Resectoscopic excision under ultrasonographic guidance of the vaginal septum in a girl with uterus didelphys with unilateral hematometra and hematocolpos was effective and easy to perform, and it fully respected the integrity of the reproductive system.

Prenatal diagnosis ofde novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.