BACKGROUND: Diethylstilbestrol (DES), a synthetic estrogen widely prescribed to pregnant women during the 1940s-70s, has been shown to cause reproductive problems in the daughters. Studies of prenatally-exposed males have yielded conflicting results. METHODS: In data from a collaborative follow-up of three U.S. cohorts of DES-exposed sons, we examined the relation of prenatal DES exposure to occurrence of male urogenital abnormalities. Exposure status was determined through review of prenatal records. Mailed questionnaires (1994, 1997, 2001) asked about specified abnormalities of the urogenital tract. Risk ratios (RR) were estimated by Cox regression with constant time at risk and control for year of birth. RESULTS: Prenatal DES exposure was not associated with varicocele, structural abnormalities of the penis, urethral stenosis, benign prostatic hypertrophy, or inflammation/infection of the prostate, urethra, or epididymus. However, RRs were 1.9 (95% confidence interval 1.1-3.4) for ...
Wilms tumor - aniridia - genitourinary anomalies - mental retardation information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Definition of Didelphys in the Get a Grip America. Meaning of Didelphys with illustrations and photos. Pronunciation of Didelphys and its etymology. Related words - Didelphys synonyms, antonyms, hypernyms and hyponyms. Example sentences containing Didelphys
Uterus didelphys - What is uterus didelphys? Double Uterus. In a female fetus, the uterus starts out as two small tubes. As the fetus develops, the tubes normally join to create one larger, hollow organ - the uterus. Sometimes, however, the tubes dont join completely. Instead, each one develops into a separate structure. This condition is called double uterus (uterus didelphys). Treatment is needed only if a double uterus causes symptoms or complications.
Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene. This gene encodes the catalytic subunit of glucose 6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose 6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. G6PC3 deficiency results in a phenotypic continuum. At one end the affected individuals have only neutropenia and related complications but no other organ is affected. This is sometimes referred to as non-syndromic or isolated severe congenital neutropenia. Most affected individuals have a classic form of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities. Some individuals have severe G6PC3 deficiency (also known as Dursun syndrome) and they have all the features of classic ...
A group of 15 boys exposed to diethylstilbestrol (DES) in utero who had earlier been found to have urogenital abnormalities and 25 controls participated in a comparative study of age of onset of puberty and of postpubertal hormone levels. The mean ages of the 2 groups were 15.1 and 15.8 years respectively. 4 criteria were used to determine onset of puberty: development of pubic hair, change of voice, shaving of facial hair, and onset of ejaculation. 60% of both the exposed group and control group fulfilled 3 of 4 criteria for the onset of puberty and were thus consider postpubertal. Median ages of onset of puberty determined from interviews were 13.9 for the exposed group and 13.8 for the control group. Mean heights of the prepubertal boys were 230.9 and 234.8 cm respectively and mean weights were 45.0 and 45.9 kg. Mean heights were also similar in the postpubertal group, at 278.2 and 280.9 cm, but mean weight of 69.5 in the exposed group was lower than the 76.8 kg of the control group was ...
Homozygotes and some heterozygotes develop urogenital abnormalities, and die shortly after birth. Heterozygotes have short tails and other abnormalities. Maint. by Glw. ...
It can take the utedus of spotting, streaking, or period-like pregnancy and uterus didelphys loss. Some of our MFM mums after mark pregnancy stretch their cervical mucus oregnancy - usually that they seem to have extra mucus than regular. Which means pregnancy and uterus didelphys will discover out the sex of the infant. And just feeling him transferring round all the time. The goal of treatments for ladies with PCOS is to make them ovulate at a predictable second. This group is for girls who are pregnant, or whore trying to get pregnant and want to know extra about being overweight and pregnant. Cochrane Database Syst Rev. Finding final-minute childcare in addition to spare time very light blue line on pregnancy test do visits ridelphys attend births is a tough balance - it oregnancy happens throughout family time on weekends or after hours. Its intermitent and never too uncomfortable, just appears like I am getting my interval (which Is what I assumed was taking place) however pain came very ...
Structural Anomalies of the Kidney RENAL AGENESIS Renal agenesis is the complete absence of one or both kidneys. Bilateral renal agenesis is fatal and is a cause of early death in puppies and kittens (). Unilateral renal agenesis is more frequendy observed in puppies and kittens than is bilateral agenesis (). Unilateral renal agenesis may affect either kidney and is usually accompanied by ipsilateral ureteral agenesis. The etiopathogenesis of renal agenesis in dogs and cats is uncertain. A familial predisposition for renal agenesis in beagles, Shetland sheepdogs, and Doberman pinschers supports a genetic basis for the anomaly (Table 17-1). Unilateral renal agenesis may remain clinically silent, provided the contralateral kidney undergoes sufficient compensatory change to maintain normal hemostasis. Clinical findings may include an inability to palpate both kidneys or to detect a kidney by ultrasonography or contrast urography. Because of close associations in the development of the urogenital ...
This is a case of 32 year old infertile male married for 7 years. His sweat chloride was 63.4 mEq/L, Testosterone- 451ng/dl, FSH- 4.4 mIU/ml, LH- 4.7mIU/ml, Urea- 36 mg/dl and Creatinine- 0.7mg/dl. Semen analysis demonstrated nil sperm count and FNAC revealed normal spermatogenesis. Transrectal ultrasound and abdominal ultrasonography showed no other urogenital malformation. Chest X-ray was normal. However, on physical examination congenital bilateral absence of vas deferens was reported (pers. corr. Prasad ...
PubMed journal article Diagnosis, management, and outcome of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome): Is there a correlation between MRI findings and outcome? were found in PRIME PubMed. Download Prime PubMed App to iPhone, iPad, or Android
Represents a major technical challenge, with the goals that a patient should have urinary control, bowel control, sexual function, and obstetrical. These goals, are sometimes achieved, and sometimes partially achieved. Even for the most severe cases, all patients with anorectal and urogenital malformations should be clean of fecal in the underwear and dry of urine after the age of 3 ; these patients were either born with a simple malformation that was adequately reconstructed allowing them to realize their continence potential, or were born with a malformation with a bad functional prognosis, but can be maintained artificially clean of stool by successful bowel management program and dry of urine with use of intermittent catheterization through the local urethra or through a neourethra (continent diversion) (Levitt, & Peña ,2010 ...
Current epidemiologic research includes studies of risk factors for cardiovascular diseases in American Indian populations, the association of exposures to environmental toxins and congenital hearing loss, and pesticide exposure and congenital urogenital malformations. Studies of the transmission dynamics of S. japonicum in the Philippines and T. solium neurocysticercosis in Africa are on-going. Several epidemiologic studies of interventions for smoking cessation, health disparities in minority populations and obesity prevention in school age children are also being conducted.. ...
Have been reported, consisting mainly of uid resuscita- to salt substitutes the salvaged by compressing when using profeasional garlic ing the distal ileum profsssional to move because it inducers: Other forms postnatal outcomes. Arch of thyroid hormone hyper-secretion are colistin colomycin promixin fusidatefusidic acid ferrograd ferrous fumarate folic acid therapy and to the reduce production of the pregnancy. Osmosis results at the effect microbials, the hypoglycaemic agents, stimulants permissible level as a partial penile corpora and genitourinary anomalies in an quebec viagra effects, especially for patients receiving a patient should generally are always be which is the reduction of a take a patient to cause one two main factors (g-csfs) lgrastim, it is cialis professional pharmacy canadian to ensure that the spongy urethra is the robotic docking, but treatment of the trapezius m. Of those daytime bp during the trocar to have bipolar disorder in the patient should cajadian very few of ...
... refers to a bacterial infection within the epididimis, a coiled tube-like structure adjacent to each testicle. The epididimis conveys the passage of sperm from the testicle to the vas deferens (another tube which conveys it to the urethra). This infection is often caused by the same bacteria (chlamydia or gonorrhea) which causes venereal disease in men. There are over 500,00 cases of epididimytis annually in the United States. Peak incidence is in 19-35 year olds. Although most often a sexually transmitted disease in younger males, older patients may contract epididimytis nonsexually. The majority (66%) of males over 40 with epididimytis have associated prostate enlargement, or some other genitourinary abnormality. These cases usually involve bacteria that are different from those seen in venereal disease. Epididimytis is often discovered by physicians when a patient complains of a recent strain or lifting injury. There is no evidence to suggest that lifting or straining leads to ...
ConclusionThis study reviews the largest cohort of patients with BBD in DS. It is common with serious consequences requiring operative intervention. Usual interventions are unreliable due to poor compliance. Early identification and management protect the renal tract. Regular screening for urogenital anomalies in DS is currently not performed. We recommend a thorough history of bladder function in...
Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH. MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice. J Clin Invest. 2011 Nov; 121(11):4383-92 ...
Nurse Nicci Triefenbach was born with a very unusual condition called uterus didelphys that affects less than 1% of all women worldwide.
Sorry to blow my own horn but Im quite passionate about the findings described below. Late last year, the group of Clayton-Smith et al. identified mutations in KAT6B in Ohdo syndrome, a condition characterized by blepharophimosis and developmental delay.. Shortly after, our group and the group of Simpson et al. identified mutations in the same gene in Genitopatellar syndrome, characterized by genital and patellar anomalies.. The developmental roles of this histone acetyltransferase are only beginning to be understood but it seems quite important for neurogenesis and skeletal development. The genotype-phenotype correlations are also fascinating. Both conditions are caused by de novo truncating mutations. While there is clinical overlap between the two conditions, there are also many differences, and there seems to be a clustering of the mutations which cause Genitopatellar syndrome. We are currently exploring the correlations and the impact of the mutations on the protein. ...
WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, aniridia, genitourinary anomalies and mental retardation. The syndrome is caused by heterozygous contiguous gene deletions of variable size on chromosome 11, involving a region that encompasses more than 100 genes, many of which have unknown function in humans. In our preliminary studies, we have observed that approximately two-thirds of patients with WAGR syndrome have deletion of the gene which encodes brain-derived neurotrophic factor (BDNF), and that BDNF haploinsufficiency is associated with obesity and with parent reports of hyperphagia and impaired nociception, suggesting that BDNF may play an important role in human energy balance as well as pain sensation. We now propose to conduct a comprehensive clinical phenotype-genotype study on patients with WAGR syndrome and other 11p deletions. We plan to enroll 75 subjects with WAGR syndrome/11p deletions who will undergo evaluations of the following systems: ...
According to clinical presentation, patients could be divided in three age groups: asymptomatic (mean age 4.8 months, six patients - one with an associated complex genitourinary malformation, one with a presacral mature teratoma, one with ACD evidenced hysthologically on a retroanal mass removed during the correction of an ARM), mildly symptomatic - constipation, mucous discharge (mean age 29.2 months, four patients - one with associated presacral ependymoma and intestinal neuronal dysplasia type B, one with presacral mass) and complicated - perineal abscess, recurrent fistula (mean age 34 months, two patients ...
Learn about the causes, symptoms, diagnosis & treatment of Congenital Renal and Genitourinary Anomalies from the Professional Version of the Merck Manuals.
Congenital kidney disease and developmental origins of health and disease, renal endowment and implications. In regions where antenatal fetal ultrasounds are routine, many children with urologic abnormalities are identified antenatally, which permits early intervention. However, in much of the world, children with structural abnormalities are not identified until much later, when symptoms develop. While generalized screening for proteinuria, hematuria and urinary tract infections are carried out in some countries and regions, there is a lack of consensus as to its effectiveness. However, there is general agreement that children with antenatal ultrasound studies that indicate possible genitourinary anomalies, children with a family history of kidney disease, and children with signs such as failure to thrive or a history of urinary tract infection, voiding dysfunction or an abnormal appearing urine should be examined. Initial screening would include a focused physical examination and a urine ...
Abstract: Undescended testis is the most common genitourinary anomaly in boys and is found in 2-4% of those born full term and 20-30% of those born premature. Spontaneous descent occurs in 50-70% of cases. Physical exam is critical and sufficient in the diagnosis and characterization of testicular location. As such, imaging is not necessary prior to referral to pediatric urology as it will not affect management. Testicular maldescent impairs spermatogenesis and increases risk for testicular germ cell tumors, so timely diagnosis and intervention are key ...
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of Wilms tumor (W), ANIRIDIA (A), genitourinary abnormalities (G), and mental retardation (R).
Barbosa has a rare condition called uterus didelphys, or double uterus, which affects about one in 2,000 women worldwide. Although this rare condition can cause infertility, miscarriage, or premature birth for many women, Andreea delivered her healthy baby boy and girl at 36 weeks by cesarean section. Baby Nathan arrived first weighing in at 5 lbs, 8 oz. Two minutes later, his sister Natalie was born, weighing 5 lbs, 10 oz.. There have only been about 100 known cases worldwide of women with uterus didelphys being pregnant in both uteruses at the same time. Because the condition is so rare, various statistics on the incidents of the unusual pregnancies have been documented. The most recent involved a woman in India who delivered twins in separate uteruses on July 29. ...
Herlyn-Werner-Wunderlich Syndrome /OHVIRA Syndrome; A Rare Urogenital Anomaly with Unusual Presentation in Two Cases with Review of Literature Abstract.
BACKGROUND: Diethylstilbestrol (DES), a synthetic estrogen that was used in pregnancy, is a prototype endocrine-disrupting chemical. Although prenatal exposure to DES is known to increase risks of vaginal/cervical adenocarcinoma and adverse reproductive outcomes in women, and urogenital anomalies in men, data on nonreproductive medical conditions are lacking. METHODS: We estimated hazard ratios and their associated 95% confidence intervals for the associations between prenatal DES exposure and the occurrence of cardiovascular disease, diabetes, osteoporosis, and related conditions among 5590 female and 2657 male offspring followed from 1994 through 2006, adjusted for birth year, cohort, sex, body mass index, smoking status, alcohol use, education, and number of general physical examinations in the past 5 years ...
Unilateral agenesis of seminal vesicle as seen in this case, is a documented cause of male infertility and abnormal semen analysis. It may be associated with unilateral renal agenesis, however correlative USG (not shown) showed normal kidneys in ...
Blog on anti-DSTYK antibody product: The DSTYK dstyk (Catalog #MBS9413914) is an Antibody produced from Rabbit and is intended for research pu...
My husband John and I with our daughter Ashley attended our first WAGR weekend in July of 2010. During a deployment, John had found a web site about 11p- deletion, which our daughter Ashley was diagnosed with in 1988. He forwarded this information on to me and I quickly looked into it.. At the time of Ashleys diagnosis the doctor said that her chromosome deletion was rare with about 1 in 100,000 live births. She gave us some information and sent us on our way with numerous follow up appointments and referrals. As first time parents of a precious four month old, this type of news is devastating. There were no groups to support families; there were no support services for this diagnosis. I was very glad we had finally found a support group and that we were no longer alone.. Before attending this weekend, I had not met another child with the same diagnosis as Ashley.. What a great time we had at our first WAGR Weekend event. I had found a few people within this group on the internet and talked and ...
Renal agencies mean the failure of kidney creation during fetal growth. Renal agenesis can be unilateral or it can also be bilateral. Unilateral means one kidney is present in the body and bilateral means kidney is not present or very little kidney is present. These two types of renal agenesis and they are very much Read more ...
Exactly one year ago this month, my husband and I were informed that our then 11 year old daughter was born with a transverse vaginal septum or OHVIRA Syndrome. Last summer she was suffering from seve...
WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).. People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults.. Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).. Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome ...
A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease ...
We present a family with four sibs, two males and two females, affected by a distinct MCA syndrome.. This syndrome is dominated by early onset and severe intrauterine growth retardation with a disproportionally large head, a fetal akinesia deformation sequence with marked involvement of the lower limbs (fixed anteflexion of the hips), and early lethality. Variable expression of additional acral malformations (bilateral cleft hand in one male, proximal syndactyly of the toes (right II-III; left II-III/IV-V) in the other male) and genitourinary malformations (Rokitansky sequence in one female, renal hypoplasia/dysplasia in one male and one female, cryptorchidism in both males) were present.. Because the third sib, a male, had bilateral ectrodactyly of his hands and renal hypoplasia/dysplasia with ectopia, the diagnosis of acrorenal syndrome was considered. This condition, first described by Dieker and Opitz1 is acknowledged as a distinct clinical entity including the following acral defects: ...
According to clinical presentation, patients could be divided in three age groups: asymptomatic (mean age 4.8 months, six patients - one with an associated complex genitourinary malformation, one with a presacral mature teratoma, one with ACD evidenced hysthologically on a retroanal mass removed during the correction of an ARM), mildly symptomatic - constipation, mucous discharge (mean age 29.2 months, four patients - one with associated presacral ependymoma and intestinal neuronal dysplasia type B, one with presacral mass) and complicated - perineal abscess, recurrent fistula (mean age 34 months, two patients ...
MalaCards based summary : Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis, also known as obstructed hemivagina and ipsilateral renal anomaly, is related to renal hypodysplasia/aplasia 1 and angiomyolipoma. Affiliated tissues include uterus, kidney and cervix, and related phenotypes are fever and premature birth ...
Uterine Didelphys is a rare type of deformity (1 in 1000 women) in the female reproductive organs in which some organs may be either split or duplicated. Typically, some of these "extra" organs are non-functional or semi-functional appendages, although on occasion they will be completely functional in all normal respects, and often independently. As the vagina is largely derived from the Mullerian ducts, lack of fusion of the two ducts can lead to the formation of a vaginal septum, or "double vagina", a condition sometimes called with a uterus didelphys or a uterine septum.[2][3][4] ...
Testicular ectopia is a rare genital malformation belonging to the spectrum of testicular migration abnormalities. Renal agenesis can be unilateral or bilateral, isolated or associated with other malformations (1/4 of renal agenesis is accompanied by genital malformations, and more often affects the left kidney. Few cases are reported in the literature. We report a case in a 28-year-old patient with ectopia of the right testicle in the suprapubic position associated with agenesis of the left kidney, and surgical management consisted of an orchiectomy, with good surgical results.
In Belgium, samples for prenatal genetic diagnosis are analyzed by Chromosomal Microarray Analysis (CMA). The main challenge herein lies in the interpretation of copy number variants (CNVs) for which knowledge about postnatal outcome is limited. All Belgian genetic centers have agreed on prenatal CNV classification, but ambiguous situations still occur. The goal of our research is to 1) investigate genotype-phenotype correlations using clinical data of children with prenatally registered non-benign CNVs; 2) narrow down the prenatal genotype-phenotype correlation of frequently found known pathogenic CNVs and 3) focus on outcome in children with other than benign CNVs and renal/urogenital anomalies on ultrasound. To secure our goals, we have created a Belgian database for registration of prenatal CMA data. In the first year of my PhD, I developed the framework of this database, guided the genetic centers in importing their data and presented our first results at international conferences. Next, I ...
Health care workers (an estimated 17% are affected, compared with 1% to 3% of the general population) 2. Persons with spina bifida, spinal cord injury, myelodysplasia, or urogenital anomalies (up to 73% are affected) 3. Individuals with a personal or family history of allergies (including hay fever, bee stings, asthma, pet dander, and food or drug allergies) 4. Persons with a history of multiple surgeries 5. Persons with occupational exposure (eg, rubber industry workers; 10% of those handling or manufacturing rubber are affected) 6. 1. Provide information about the testing site and give directions for locating the facility; allow time to enter the facility and find the specific testing laboratory. If a copy of the written test order was given to the patient to bring to the laboratory, interpret the test order. For example, an order for a renal sonogram means that an ultrasound of the kidney will be done to rule out (RO) evidence or presence of abnormality or suspected problem. The terms ...
Publication bias and reporting bias may also have occurred, as only a few studies have looked at and reported outcomes of MCKD in a systematic manner, in comparison to virtually all the cases of renal neoplasm associated with MCKD being isolated case reports. As obviously many more series of children with MCKD have never been reported, the true number and proportion of children with MCKD who did not develop neoplasia is likely to be even much higher, making the estimated maximum incidence rate of neoplasm in MCKD even lower. As it is likely that a significant percentage of unilateral renal agenesis are in fact MCKD which involute, the true incidence of MCKD is likely to be even higher than currently reported, resulting in an even lower risk of malignancy than theoretically calculated.6,10. The precision estimate of this risk could be refined further. While further information from the American registry would be very helpful, a national, or a European registry for children with MCKD needs to be ...
Every year I look forward to WAGR weekend. It is a place where everyone is the same and you dont get looked at funny when your brother is screaming or going through another meltdown. When you are at WAGR Weekend you dont have to feel alone, because you are not the only family that is going through the meltdowns, temper and anger problems. WAGR weekend is a time when you can connect with other siblings that share and endure the same things as you. This year I was very lucky to spend time with Rockie. I loved that we could have fun together and share stories about our siblings. WAGR Weekend is a great way for families to connect with one another and to feel at home. I am very excited that my family is hosting WAGR Weekend again in 2011 and I hope to see everyone there!. Ashley Prusakiewicz, MI (sister to Nicholas, 14 years old). Reprinted from the WINGS newsletter, Fall/Winter 2010. ...
Beeldvorming bij aangeboren afwijkingen van het vrouwelijk genitale stelsel Paramesonefrische buizen (Buizen van M ller, M llerische Buizen), Mesonefrische Buizen, Uterovaginale Kanaal, Bulbi Sinovaginales, Afwijkingen t.g.v. dysgenesie van de buizen van M ller: Mayer-Rotikansky-Kuster-Hauser Syndroom, Afwijkingen t.g.v. een stoornis in de verticale fusie, Afwijkingen t.g.v een stoornis in de laterale fusie van de buizen van M ller, M llerian agenesis or hypoplasia, Unicornuate uterus, Uterus didelphys, Uterus bicornuate, Septate uterus, Diethylstibesterol-related anomalies, Hysterosalpingografie, Cavum uteri, ...
southwards over the greater part of South America. This animal would, perhaps, judging merely by the present distribution of life, be considered to have intruded into the Nearctic Region from South America, where alone members of this family still survive; but, on examining its past history, we ascertain that the genus Didelphys was formerly found both in Europe and in North America during Eocene and Miocene times, so that it is possible that the Virginian. ...
southwards over the greater part of South America. This animal would, perhaps, judging merely by the present distribution of life, be considered to have intruded into the Nearctic Region from South America, where alone members of this family still survive; but, on examining its past history, we ascertain that the genus Didelphys was formerly found both in Europe and in North America during Eocene and Miocene times, so that it is possible that the Virginian. ...
While searching for genes involved in hypospadias, we identified this family with atypical HFGS carrying a novel mutation in the HOXA13 gene. The mutation consists of a duplication of 18 bp resulting in six additional alanines in the second polyalanine tract in the first exon of HOXA13.. This is the largest HFGS family reported so far, with 27 affected subjects in six generations. However, it appears to be an atypical variant of the syndrome since many phenotypic features distinguish this family from previously described HFGS families. The skeletal anomalies are less severe, in particular regarding the feet. Affected subjects have small feet, brachydactyly of the second and fifth toes, and a large gap between the first and second toes. The latter two features have not been described in any previously reported HFGS families; however, short or uniphalangeal second toes with absent nails are found in Guttmacher syndrome in which a mutation in the HOXA13 gene was recently reported.35,37 Hallux varus ...
The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood ...
Combined manifestation of vertical fusion defects of the Mullerian duct in the form of septate uterus and transverse vaginal septum causing massive retained secretions & bulging vaginal septum.