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Folia Medica Oct 2021Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone...
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.
Topics: 46, XX Disorders of Sex Development; Adult; Amenorrhea; Congenital Abnormalities; Female; Humans; Kidney; Mullerian Ducts; Urogenital Abnormalities; Young Adult
PubMed: 35851218
DOI: 10.3897/folmed.63.e63325 -
Facial Plastic Surgery : FPS Dec 2015Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are... (Review)
Review
Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids.
Topics: Congenital Abnormalities; Ear; Humans
PubMed: 26667631
DOI: 10.1055/s-0035-1568139 -
Gynecological Endocrinology : the... Sep 2014Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a disorder in women that presents as Mullerian agenesis. These patients present internal genitalia abnormalities that... (Review)
Review
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a disorder in women that presents as Mullerian agenesis. These patients present internal genitalia abnormalities that include the absence of a uterus and the upper two-thirds of the vagina. In this review, current diagnostic methods, accompanying complications (congenital and psychological) and non-surgical and surgical treatments are summarized. Ultrasound and MRI have been the most documented options in MRKH syndrome diagnosis. Many women with MRKH syndrome have renal, skeletal, hearing or cardiac congenital anomalies and increased levels of psychological distress. Non-surgical interventions can be used to create a sexually functional neovagina through vaginal dilation, and surgical interventions provide alternate methods of creating a neovagina. Additionally, vaginal tissue engineering and gene therapy might provide more effective approaches in solving MRKH syndrome.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Surgically-Created Structures
PubMed: 24948340
DOI: 10.3109/09513590.2014.927855 -
The Surgical Clinics of North America Oct 2022Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression.... (Review)
Review
Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression. Evaluation may include nonsurgical subspecialty consultations and imaging studies. Treatment may be nonoperative or surgical. Long-term follow-up studies have identified rare complications of traditional open repair. Routine in utero ultrasonography has led to increasing identification of congenital lung anomalies, including congenital cystic adenomatoid malformations, pulmonary sequestrations, and bronchogenic cysts. Short-term follow-up studies have suggested that some lesions may regress spontaneously. Minimally invasive techniques, including thoracoscopy, may allow for early surgical resection with less morbidity than traditional open surgery.
Topics: Cystic Adenomatoid Malformation of Lung, Congenital; Funnel Chest; Humans; Lung; Surgeons; Thoracic Wall
PubMed: 36209753
DOI: 10.1016/j.suc.2022.07.017 -
Abdominal Imaging Oct 2015Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian duct anomalies with mesonephric duct... (Review)
Review
Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian duct anomalies with mesonephric duct anomalies. The triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis characterizes this syndrome. Patients generally present with non-specific symptoms after menarche. Pelvic pain, dysmenorrhea, and palpable mass due to hematocolpos or hematometra are the most common findings. Pyohematocolpos and pyosalpinx may appear as acute complications, while endometriosis and pelvic adhesions constitute potential long-term complications. When a prenatal diagnosis of unilateral renal agenesis in newborn girls is known, a gynecological imaging study should be performed to exclude uterine and vaginal abnormalities. These patients should be followed up to ensure that a timely surgical correction is performed. The diagnosis of HWWS is difficult due to the lack of specific symptoms or findings upon physical examination. An accurate imaging description of these congenital anomalies is crucial to guide patients toward surgical treatment, relieving acute complications, and preserving the normal fertility. The authors provide a pictorial review of the magnetic resonance imaging and ultrasonography findings of the HWWS with correlation to embryological, clinical, and surgical features.
Topics: Congenital Abnormalities; Female; Humans; Kidney; Kidney Diseases; Magnetic Resonance Imaging; Mullerian Ducts; Postoperative Complications; Preoperative Care; Syndrome; Ultrasonography; Urogenital Abnormalities; Wolffian Ducts
PubMed: 25852048
DOI: 10.1007/s00261-015-0421-0 -
Journal of Perinatal Medicine Nov 2018
Topics: Aneuploidy; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 30422803
DOI: 10.1515/jpm-2018-0333 -
The Journal of Hand Surgery... Aug 2022Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a... (Review)
Review
Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein. It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequently with ulnar dimelia, thumb aplasia/hypoplasia, ulnar ray duplication, symbrachypolydactyly, 'rosette' hands, facial dysmorphism like hypertelorism, broad columella and flat nose, CNS anomalies like aplasia/hypoplasia of corpus callosum, hydrocephalus and muscular dystonia. We report a 2-year-old male child with LSS and perform a literature review to expound on this rare syndrome. Level V (Therapeutic).
Topics: Abnormalities, Multiple; Child; Child, Preschool; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Nose; Syndrome
PubMed: 35965362
DOI: 10.1142/S2424835522720389 -
Archives of Disease in Childhood. Fetal... Jan 2021
Topics: Breast Feeding; Congenital Abnormalities; Diagnosis, Differential; Female; Humans; Infant, Newborn; Laryngomalacia; Larynx; Polyhydramnios; Pregnancy; Tachycardia, Supraventricular
PubMed: 32788392
DOI: 10.1136/archdischild-2020-319435 -
Fetal Diagnosis and Therapy 2023Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and...
INTRODUCTION
Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3-8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel's deformity, even those with a mild form of the defect.
CASE PRESENTATION
We report a case of prenatal sonographic diagnosis of Sprengel's deformity with additional features, as yet undescribed and missed - although visible - on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel's anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction.
CONCLUSION
Diagnosis of Sprengel's deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect.
Topics: Child; Infant, Newborn; Female; Pregnancy; Humans; Meningocele; Scapula; Shoulder Joint; Magnetic Resonance Imaging; Congenital Abnormalities
PubMed: 37393895
DOI: 10.1159/000531677 -
Urology Mar 2021To describe 5 cases with complete urinary bladder duplication, their associated conditions, and their respective treatment. Urinary bladder duplication is an extremely...
OBJECTIVE
To describe 5 cases with complete urinary bladder duplication, their associated conditions, and their respective treatment. Urinary bladder duplication is an extremely rare congenital anomaly of the urinary system. So far about 70 cases have been published in the English literature, most of them as case reports and a few case series.
METHODS AND RESULTS
All consecutive patients with bladder duplication treated at our institution between 2000 and 2015 were included. Patient records were retrospectively analyzed, and 5 patients with urinary bladder duplication were identified (see Summary Figure). Two patients were male. All duplications were recognized by health care providers. In 1 case recognition was prenatal (MRI in utero at 22 weeks of gestation), the latest recognition was at 12 months of age. A voiding cystourethrography was performed in 4 patients to confirm the diagnosis. In 4 patients the bladder duplication could be classified according to Abrahamson with 3 complete reduplications and one complete sagittal septum. All patients suffered from associated congenital diseases, but only one patient had urinary tract infections. Surgical treatment was only performed in one patient. Median follow-up was 34 months.
DISCUSSION
Urinary bladder duplications reflect extremely seldom disorders that are almost always associated with other congenital anomalies. Treatment depends on patients' symptoms and associated conditions and hence needs to be individualized to each patient.
Topics: Congenital Abnormalities; Female; Humans; Infant; Infant, Newborn; Male; Retrospective Studies; Urinary Bladder
PubMed: 33189736
DOI: 10.1016/j.urology.2020.11.001