Sacral Agenesis Research Articles

Neurogenic Bladder Dysfunction Revisited; the Risk on Upper Urinary Tracts

The most common cause of Neurogenic Bladder Dysfunction (NBD) is meningomyelocele. However, NBD can result to CNS at any level. Other reasons behind Neurogenic Bladder Dysfunction include spina bifida occulta (SBO), sacral agenesis, lipomeningocele and tethered cord [1-4]. The average worldwide incidence of spina bifida is 1 case per 1000 births, but marked geographic variations occur. The chance of having a sibling with the same condition is about 3-5% if the myelomeningocele is present in one child in a family. Folic acid deficiency appears to increase the incidence of having a child with spinal dysraphism [5].

Urological outcome in patients with Currarino syndrome

IntroductionCurrarino syndrome is a type of caudal regression syndrome characterized by the association of hemisacrum, anorectal malformation and presacral mass. Only few studies on small series report the incidence of urinary dysfunction in Currarino syndrome. Our aim was to evaluate the urological outcome in patients with Currarino syndrome. Patients and methodsWe retrospectively reviewed all Currarino syndrome patients treated in our institution. Of 20 patients, we could evaluate the urological outcome in 16. This group of patients underwent clinical, radiological and urodynamic evaluation. ResultsAll 16 patients had a sacral defect, fourteen of them presenting a presacral mass (87.5%), eight a tethered cord (50%), and 7 anorectal malformations (43.7%). Eight patients underwent neurosurgical treatment for neural tube defects. In 14 patients, the presacral mass was resected. One case presented detrusor overactivity, 2 recurrent urinary tract infections and 2 vesicoureteral refluxes. Both patients with lipomyeloschisis had a neuropathic bladder. All the other patients could void the bladder spontaneously. Renal function was normal in all. ConclusionCurrarino syndrome is a rare congenital disorder presenting a variable phenotype. Urological outcome is good in the majority of patients.

P11.13: The prenatal diagnosis of sacral agenesis with fetal akinesia deformation sequence in the lower extremities

<scp>P</scp>11.13: The prenatal diagnosis of sacral agenesis with fetal akinesia deformation sequence in the lower extremities

HLXB9 gene expression, and nuclear location during in vitro neuronal differentiation in the SK-N-BE neuroblastoma cell line.

Different parts of the genome occupy specific compartments of the cell nucleus based on the gene content and the transcriptional activity. An example of this is the altered nuclear positioning of the HLXB9 gene in leukaemia cells observed in association with its over-expression. This phenomenon was attributed to the presence of a chromosomal translocation with breakpoint proximal to the HLXB9 gene. Before becoming an interesting gene in cancer biology, HLXB9 was studied as a developmental gene. This homeobox gene is also known as MNX1 (motor neuron and pancreas homeobox 1) and it is relevant for both motor neuronal and pancreatic beta cells development. A spectrum of mutations in this gene are causative of sacral agenesis and more broadly, of what is known as the Currarino Syndrome, a constitutional autosomal dominant disorder. Experimental work on animal models has shown that HLXB9 has an essential role in motor neuronal differentiation. Here we present data to show that, upon treatment with retinoic acid, the HLXB9 gene becomes over-expressed during the early stages of neuronal differentiation and that this corresponds to a reposition of the gene in the nucleus. More precisely, we used the SK-N-BE human neuroblastoma cell line as an in vitro model and we demonstrated a transient transcription of HLXB9 at the 4th and 5th days of differentiation that corresponded to the presence, predominantly in the cell nuclei, of the encoded protein HB9. The nuclear positioning of the HLXB9 gene was monitored at different stages: a peripheral location was noted in the proliferating cells whereas a more internal position was noted during differentiation, that is while HLXB9 was transcriptionally active. Our findings suggest that HLXB9 can be considered a marker of early neuronal differentiation, possibly involving chromatin remodeling pathways.

Predictors of urinary continence following tethered cord release in children with occult spinal dysraphism

ObjectiveChildren with occult spinal dysraphism represent a wide spectrum of patients. Previous studies assessing urologic outcomes have in part been deficient due to the inability to appropriately categorize these patients and gather long-term follow-up data. In this study, a uniform set of patients that had occult spinal dysraphism with magnetic resonance imaging findings of a fatty filum terminale (FF) and/or low-lying cord (LLC) was identified. Utilizing long-term follow-up data, predictors for achieving urinary continence following tethered cord release (TCR) were determined. MethodsA retrospective chart review of pediatric patients with a diagnosis of tethered cord who underwent TCR from 1995 to 2005 was performed. Analysis was limited to patients who had primary TCR by one of two neurosurgeons within our multidisciplinary spina bifida clinic, who had greater than 1-year follow-up, and who were old enough to have continence status assessed (age > 6 years unless definitively toilet trained earlier). Patients with other associated forms of spinal dysraphism (lipomyelomeningeocele, spinal lipomas, sacral agenesis), anorectal malformations, and genitourinary anomalies were excluded. Pre- and post-TCR urodynamics, radiographic studies, functional orthopedic status, and urologic outcomes were assessed. Urodynamic results were categorized by three blinded urologists into one of three urodynamic patterns: (1) normal, (2) indeterminate, and (3) high risk. ResultsA total of 147 patients with FF and/or LLC that underwent TCR were reviewed. 51 patients were excluded because of another associated spinal dysraphism (15/51 patients) or an anorectal/genitourinary anomaly (36/51 patients). Fifty-nine of the remaining 96 patients had adequate long-term follow-up data to be included in the study. 20 patients were asymptomatic at the time of TCR while 39 presented with orthopedic and/or urologic symptoms. The average age at surgery was 59.3 months (range 2–277 months) with an average follow-up of 7.0 years (range 1–16 years). At latest follow-up, 47 (80%) patients were continent while 12 (20%) were either incontinent or utilizing clean intermittent catheterization (CIC). Statistical analysis revealed that age of untethering, type of cutaneous lesion, level of conus, presence of hydronephrosis, and high-grade vesicoureteral reflux (VUR) were not independent predictors of continence. In patients with a cutaneous lesion who were asymptomatic, 19/20 obtained continence post-TCR (*p = 0.036). In patients who were old enough to assess continence pre-TCR, 14/25 patients were continent pre-TCR and 11/25 were incontinent. Of the 14 who were continent pre-TCR, all remained continent post-TCR (*p = 0.002). Of the 11 who were incontinent pre-TCR, five (45%) eventually became continent post-TCR. Assessment of urodynamic data revealed that neither pre- nor post-TCR urodynamics predicted continence status. ConclusionIsolated cutaneous lesions and preoperative continence status are positive predictors for post-TCR continence. While pre- and post-TCR urodynamics do not predict continence status, their utility in preoperative work-up, monitoring for retethering, and long-term urologic follow-up requires further examination.

Correlation of Sacral Ratio and Reflux-Related Renal Injury in Children with Vesicoureteral reflux with and without Nephropathy

Correlation of Sacral Ratio and Reflux-Related Renal Injury in Children with Vesicoureteral reflux with and without Nephropathy parsa Yousefichaijan--- , Ali Cyrus--- Fatemeh Dorreh--- , Mohammad rafiei--- , Mojtaba Sharafkhah--- , Fatemeh Safi--- , Mahdyieh Naziri--- , Hassan Taherahmadi--- Introduction: Vesicoureteral reflux refers to the retrograde flow of the urine from the bladder to the ureter and kidney. The ureteral attachment to the bladder is normally oblique, between the bladder mucosa and detrusor muscle, creating a flap-value mechanism that prevents reflux. Reflux occurs when the submucosal tunnel between the mucosa and detrusor muscle is short or absent. The inflammatory reaction caused by pyelonephritis can result in scarring, which is also termed reflux nephropathy. Since sacral bone anomalies have a direct influence on the final function of the urinary and bowel systems, this study was performed to investigate the relationship between sacral ratio and reflux nephropathy. Materials and Methods: In this case–control study, the case -control group included 200 children under 9 years old who were referred to Amir-Kabir Hospital clinics with urinary tract infection and according to the VCUG and DMSA results, children with various grades of VUR entered the study. The sacral ratio was measured in the two groups and compared by a radiologist. The data were analyzed using Chi-2 and Mann Whitney Tests and software SPSS 16. Results: The case group included 48 males and 52 females with a mean age of 3.7 years old who had reflux nephropathy, and the control group included 47 males and 53 females with a mean age of 4.1 years who did not have reflux nephropathy. Sacral ratio abnormality was detected in 64% and 23.7% of the cases and controls respectively, which showed a significant difference (p-value=0.003). Conclusions: Sacral ratio abnormality was more common in children with vesicoureteral reflux and reflux nephropathy than children with VUR without reflux nephropathy. Keywords: Vesico-Ureteral Reflux; Sacral agenesis; Child; Diagnostic imaging.

MP3-05 URETHROPLASTY FOR HIGH-RISK, LONG SEGMENT URETHRAL STRICTURES WITH VENTRAL BUCCAL MUCOSA GRAFT AND GRACILIS MUSCLE FLAP

You have accessJournal of UrologyTrauma/Reconstruction: Trauma & Reconstructive Surgery II1 Apr 2014MP3-05 URETHROPLASTY FOR HIGH-RISK, LONG SEGMENT URETHRAL STRICTURES WITH VENTRAL BUCCAL MUCOSA GRAFT AND GRACILIS MUSCLE FLAP Drew A. Palmer, Alex J. Vanni, Jill C. Buckley, and Leonard N. Zinman Drew A. PalmerDrew A. Palmer More articles by this author , Alex J. VanniAlex J. Vanni More articles by this author , Jill C. BuckleyJill C. Buckley More articles by this author , and Leonard N. ZinmanLeonard N. Zinman More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2014.02.184AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES End-stage urethral stricture disease presents a reconstructive challenge that frequently results in urinary diversion. Our objective was to assess the success of urethral reconstruction for high-risk, long segment urethral strictures with a ventral buccal mucosa graft and gracilis muscle flap in patients who were unfit for standard repair because of a poor graft bed. METHODS A retrospective review of 1039 patients who underwent urethroplasty from a tertiary care facility between 1999 and 2013 was performed. We identified 18 patients who underwent urethroplasty with ventral buccal mucosa graft and gracilis muscle flap buttress as a graft bed. Patient demographics, stricture etiology, length, location, prior surgical procedures and surgical approach were identified. Stricture recurrence was defined as the inability to pass a 17 Fr cystoscope. RESULTS The mean age was 60.2 years (23-81) with a mean follow-up of 39.3 months (6-92). The mean stricture length was 8.2 cm (3.5-15). Stricture etiology was radiation therapy in 50% (due to prostate cancer in 33%, urethral cancer in 11.1%, and Ewing’s sarcoma in 5.6%), followed by trauma (16.7%), prostatectomy (11.1%), endoscopic instrumentation (11.1%), hypospadias (5.6%), and sacral agenesis (5.6%). 7 patients (38.9%) had previous urethroplasty and 3 (16.7%) had previous UroLume® Urethral Stents placed. The strictures were located in the posterior urethra with or without involvement of the bulbar urethra in 55.6%, followed by the bulbomembranous urethra (33.3%), bulbar urethra (5.6%), and penile urethra (5.6%). All patients had a ventral buccal mucosa graft urethroplasty with gracilis muscle flap. Urethral reconstruction success was 83.3% (15/18). Of the three failures, one had an ileal loop while the other two were managed with a suprapubic tube. Mean time to stricture recurrence was 6 months (2-13). 5 patients (27.8%) had postoperative incontinence requiring an artificial urinary sphincter. CONCLUSIONS Urethroplasty for high-risk, long segment urethral strictures can be successfully performed with a ventral buccal mucosa graft and gracilis muscle flap avoiding urinary diversion in the majority of patients. © 2014FiguresReferencesRelatedDetails Volume 191Issue 4SApril 2014Page: e35 Advertisement Copyright & Permissions© 2014MetricsAuthor Information Drew A. Palmer More articles by this author Alex J. Vanni More articles by this author Jill C. Buckley More articles by this author Leonard N. Zinman More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

At Least an Infantogram if not Perinatal Autopsy

AbstractTo study the feasibility and value of postmortem fetal infantogram (X-ray film) in pregnancies terminated for prenatally diagnosed fetal congenital malformations and stillborn fetuses with congenital anomalies. Forty-two fetuses were diagnosed antenatally by ultrasonography to have fetal congenital malformation, 36 couples opted for medical termination of pregnancy (MTP) and intrauterine death (IUD) occurred in six cases. Informed written consent for autopsy including infantogram was given by 41 couples, one couple permitted only radiographs. On infantogram, the antenatal ultrasound diagnoses were confirmed in all the cases of central nervous system anomalies, but were not useful for genitourinary anomalies or cardiac anomalies. In five cases of antenatally suspected skeletal anomalies, radiographs changed the diagnosis of thanatophoric dwarf to osteogenesis imperfecta type llC in one case and achondrogenesis type 1B in another case. Infantogram made the syndromic diagnosis in three cases—sirenomelia, Roberts syndrome and caudal regression syndrome. Congenital diaphragmatic hernia was diagnosed at infantogram in a case missed on ultrasound. In three cases of nonimmune hydrops, X-ray films correlated with ultrasound findings, but could not find the cause. If autopsy, the ‘goal standard’ test is refused or cannot be done, at least an infantogram should routinely be done in pregnancies terminated for prenatally diagnosed fetal congenital malformations and stillborn fetuses with congenital anomalies, as it is noninvasive, easily available and consent given. It may change the diagnosis and counseling for future pregnancies, hence very useful in perinatal medicine.

A sonographic approach to prenatal classification of congenital spine anomalies.

Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound.

Novel Insights into Early Embryonic Demise via 3D Surface Rendered Imaging in 107 Cases

Sonographic imaging techniques including 3 D volumetry were evaluated in women with missed abortion. Special emphasis was put on the impact of additional information regarding the etiology of the demise and improved visualization of embryonic and fetal anomalies due to the application of the latest imaging tools, e. g. HD live™. Parental acceptance of a more realistic display of the embryo/fetus in missed abortion was analyzed. Between 09/2009 and 09/2012, 107 pregnancies with a missed abortion in the first trimester were included in this prospective survey. Using a transvaginal approach, all 2 D and 3 D studies were carried out with high-resolution 5 - 9 and 6 - 12 MHz probes. The mean gestational age was 70.3 days (49 - 110 days). The difference between estimated gestational age and sonographic age at evaluation for missed abortion was 13.5 days (-13 - 40 days). Additional information via three-dimensional volume acquisition, like craniofacial deformities, clefts, neural tube defects, abdominal wall defects and caudal regression syndrome, could be documented in 23/107 cases (21.5 %). In 2/107 cases the parents disapproved of the 3 D visualization due to the more realistic presentation. 3 D ultrasound in cases of missed abortion can provide additional information regarding the presence of structural anomalies. It may give further details regarding the timing of embryonic/fetal demise in early pregnancy. Sufficient informational value is regularly obtained in cases having a CRL > 8 mm. In counseling parents, 3 D ultrasound is a useful tool and is generally well accepted.

Sirenomelia syndrome (caudal dysgenesis): A case report

Sirenomelia is a rare congenital anomaly with an incidence of one in 100,000 pregnancies. It is also called as Mermaid Syndrome because of fused leg, giving appearance of mermaid’s tail. The cause of the condition is probably due to abnormalities in gastrulation in caudal segments. It was initially termed caudal regression, but it is clear that structures do not regress, they simply do not form. It is also known as caudal agenesis and sacral agenesis. Sirenomelia is characterized by varying degrees of flexion, inversion, lateral rotation, and fusion of the lower limbs. Other anomalies associated with this condition are, defects in lumbar and sacral vertebrae, renal agenesis, imperforate anus and agenesis of internal genital structures except the testes and ovaries. Its cause is unknown. It occurs sporadically but is most frequently observed among infants of diabetic mothers. This study points out a detail analysis of phenotypic features along with structural alteration of internal organs. The possible causes and outcome of the condition can be correlated, that may help in better understanding of the condition and provide clues for possible management.

A case of caudal regression syndrome: walking or sitting?

Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx. We present a case of CRS which is not intended operation for orthopedic deformities considering functionality. 2, 5 year-old girl referred to our clinic with complaints about walking disability, knee and foot deformities. Patient's mother with unregulated diabetes did not have a history of drug use, radiation exposure and serious illness during pregnancy. Diagnosis had been put during antenatal follow-ups. On physical examination, her lower extremities were hypoplastic and had no muscle activity. Her hips were flexed and abducted, but did not have contractures. Her knees had 75 degrees of flexion contractures with popliteal webs and feet had equinovarus deformity. Frog belly was present due to abdominal muscles weakness. Also hypoplasic labia majora has been identified. In lumbar MRI, spinal cord was terminated at 6th thoracic (T6) vertebrae and the last solid vertebrae level was at T10. Patient who has been following by urology with clean intermittent catheterization had also severe urological problems including horseshoe kidney, neurologic bladder, vesico-ureteral reflux and grade 2 hydronephrosis. Orthopedic consultation was made for her deformities. They decided that ambulation unexpected patient's knee flexion contractures were helping sitting balance. Because of this operation was not considered. Prognosis, treatment options, strength exercises for upper extremities, skin care were told to parents and patient was taken to follow. CRS is a rare congenital abnormality which is associated with orthopedic deformities, as well as urological, anorectal and cardiac malformations. Treatment requires a multidisciplinary approach. It should not be forgotten that purpose of rehabilitation is not to correct all deformities but increase the functionality of everyday life.

Sirenomelia: A case report

Introduction: Sirenomelia is a congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Most of the times, the condition is fatal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins. This abnormality was initially confused with caudal regression syndrome, but later was given a new name, i.e., sirenomelia mermaid syndrome. Case Report: We present a case of a 15-year-old boy with partially fused lower limbs. A provisional diagnosis of sirenomelia is made and detailed review and surgery was planned. The boy did not report for further treatment. Conclusion: Very rare disorder with prevalence of 1 in 100,000 live births with a total of 300 cases reported till today in which nine are from India. The precise etiology of sirenomelia was not well understood. Many theories have been proposed but none of these is considered definitive. It is very important to diagnose this condition by ultrasonography so that termination of pregnancy can be carried out.

Hematometrocolpos and ambiguous genitalia in an Indian girl with axial mesodermal dysplasia spectrum

Axial mesodermal dysplasia spectrum (AMDS) is a developmental defect characterized by features of both caudal regression syndrome and oculo-auriculo-vertebral spectrum. This spectrum of anomalies is probably due to a generalized alteration in mesodermal cell migration during the primitive streak period. We report a female newborn with features of the axial mesodermal dysplasia complex presenting with ambiguous genitalia and hematometrocolpos requiring surgical intervention. The present case highlights the clinical spectrum with rare genital features (ambiguous genitalia and hematometrocolpos) in a patient with AMDS from India. To the best of our knowledge, this is the first case of AMDS with such an unusual presentation.

A Rare Case of Caudal Regression Syndrome linked to Tethered Cord and Dermal Cysts

A Rare Case of Caudal Regression Syndrome linked to Tethered Cord and Dermal Cysts

SPLIT-APPENDIX TECHNIQUE: SURGICAL CHOICE FOR COMPLETE INCONTINENCE IN CAUDAL REGRESSION SYNDROME

In the last decades the surgery for total continent reconstruction has been changed by the introduction of intermittent catheterized stoma with the purpose to preserve urinary tract function, urinary continence, elimination of fecal soiling, preservation of quality of life with complete self-sufficiency. We report a rare case of complete incontinence in caudal regression syndrome in whom the appendix was long enough to be divided for creation of both channels for the treatment of urinary and fecal incontinence. A 9-year-old male patient with complete incontinence in caudal regression syndrome was submitted to a Mitrofanoff appendicovesicostomy procedure (AV) in conjunction with appendicocecostomy procedure (ACE). The appendix was divided into two different parts preserving adequate perfusion. Fecal continence was achieved for a period of 18-20 hours after a colonic irrigation with 500 ml of saline solution one time daily, while urinary continence was obtained after suburethral endoscopic injection of dextranomer/hyaluronic acid (Deflux) and intermittent catheterization every 3 hours with an evident reduction of upper urinary tract dilatation. The combination of ACE and Mitrofanoff principle have revolutionized the management of urinary and fecal incontinence in patients who are unable to utilize their urethra to keep themselves dry.

SPLIT-APPENDIX TECHNIQUE: SURGICAL CHOICE FOR COMPLETE INCONTINENCE IN CAUDAL REGRESSION SYNDROME

In the last decades the surgery for total continent reconstruction has been changed by the introduction of intermittent catheterized stoma with the purpose to preserve urinary tract function, urinary continence, elimination of fecal soiling, preservation of quality of life with complete self-sufficiency. We report a rare case of complete incontinence in caudal regression syndrome in whom the appendix was long enough to be divided for creation of both channels for the treatment of urinary and fecal incontinence. A 9-year-old male patient with complete incontinence in caudal regression syndrome was submitted to a Mitrofanoff appendicovesicostomy procedure (AV) in conjunction with appendicocecostomy procedure (ACE). The appendix was divided into two different parts preserving adequate perfusion. Fecal continence was achieved for a period of 18-20 hours after a colonic irrigation with 500 ml of saline solution one time daily, while urinary continence was obtained after suburethral endoscopic injection of dextranomer/hyaluronic acid (Deflux) and intermittent catheterization every 3 hours with an evident reduction of upper urinary tract dilatation. The combination of ACE and Mitrofanoff principle have revolutionized the management of urinary and fecal incontinence in patients who are unable to utilize their urethra to keep themselves dry.

English

Sirenomelia THE MERMAID SYNDROME condition is found approximately. 1:1,00,000 live births 1 and is fatal within the first day because of complication of abnormal kidney and urinary system development. Sirenomelia is characterised by fusion of the lower limbs with absent kidneys, absent external genitalia and other gastrointestinal defects. It results from the failure of normal vascular supply from the lower aorta in vitro, maternal Diabetes mellitus has been associated with caudal regression syndrome and sirenomelia. We are reporting rare case of mermaid baby which was delivered in our hospital. Early diagnosis by ultrasound scan and termination should be our goal.

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development.

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

BackgroundThe T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the mesoderm and the axial...