Unilateral congenital lunate absence: A case report

Isolated congenital aplasia of carpal bones in the absence of an associated congenital syndrome is exceedingly rare. Since the first documented case report of congenital carpal bone absence in 1911, only 12 additional case reports have been published. Here we present a case report of an otherwise healthy 43-year-old male with unilateral congenital absence of the lunate, which has only been previously reported once in the literature.

Vaginal bleeding in a misdiagnosed Mayer-Rokitansky-Küster-Hauser syndrome

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. However, after vaginal bleeding compatible with menstruation, repeat transabdominal ultrasonography and MRI revealed a left-deviated unicornuate uterus.

New method of surgical treatment of patients with congenital oval window aplasia

Aplasia of the oval window is an extremely rare developmental anomaly of the middle ear. Previously, many authors proposed various methods of surgical treatment of this pathology, but in most cases it was not possible to achieve a stable satisfactory functional result. At this stage, an idea was formed about the main reason for the unsatisfactory results, namely, the overgrowth of the formed vestibulostomy, which is accompanied by fixation of the prosthesis. The solution of this problem is one of the priority tasks of surgery for malformations of the middle ear at this stage. This paper presents a new developed and patented method of surgical treatment of patients with congenital aplasia of the vestibule window. The method consists in modeling a complex titanium prosthesis, consisting of an f-element and an m-element. The f-element is installed in the neo-oval window and has the function of a protector that prevents fixation of the prosthesis as a result of bone-cicatricial obliteration processes. Further, the plunger part of the f-element is installed in the m-element. The developed method of stapes prosthetics in case of anomalies in the development of the vestibule window, based on the results of this study, has proven its high efficiency. Installation of a modified endo-lymphatic shunt into the formed neo-oval window, pressing the fascial flap previously placed on the neo-oval window, followed by the insertion of the K-piston prosthesis, prevents overgrowing of the neo-oval window in the postoperative period, prevents the development of fixation of the prosthesis and prevents the development of perilymphatic fistula. A comparative assessment of the effectiveness of the proposed method and method with the formation of a neo-oval window and the installation of a stapedial prosthesis (as in piston stapedoplasty) was carried out. The effectiveness of the developed method has been proven – 89% of the functional efficiency in the long-term postoperative period, which is close to the indicators of the effectiveness of piston stapedoplasty in otosclerosis (the frequency of a stable satisfactory functional result when performing piston stapedoplasty in otosclerosis is about 95%).

Epiglottic aplasia in an infant with Joubert syndrome

Congenital aplasia of the epiglottis is a rare condition with variable presentation ranging from respiratory distress requiring surgical airway to an asymptomatic finding. Epiglottic aplasia is presumed to be caused by arrest of development of laryngeal structures and is most commonly associated with syndromic conditions, though isolated episodes of aplasia of the epiglottis do exist. In this report, we present a term infant with multiple congenital anomalies who was noted to have a hoarse cry prompting laryngoscopy. This showed complete absence of the epiglottis. Subsequent genetic testing showed mutations in the CPLANE1 gene that is associated with Joubert syndrome. Our patient was able to be discharged home on a thickened formula diet and is eating and gaining weight appropriately. Here, we present a review of the currently available literature of other cases of congenital epiglottic aplasia or hypoplasia discussing the presentation, management and outcomes in these cases.

MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME: A CASE REPORT

Mayer-Rokitansky-Kuster-Hauser syndrome is an uncommon condition, with an incidence of 1 in 4000- 5000 female births and is the second most frequent cause of primary amenorrhea after gonadal dysgenesis .The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian duct which develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Müllerian duct in affected individuals is unknown. This abnormality is characterized by congenital aplasia/hypoplasia of the uterus and the upper part (2/3) of vagina, in young women presenting otherwise with normal endocrine status. It may include absence or hypoplasia of the uterus and fallopian tubes. The patients present with normal secondary sexual characteristics, as the functional ovaries are present, but menstruation is absent .

Bilateral congenital aplasia of nasal lower lateral cartilage: a rare anomaly

Congenital nasal anomalies are rare and occur in 1/20 000–1/40 000 newborns. An 8-year-old boy presented with developmental aplasia of bilateral nasal lower lateral cartilages, with excessive wrinkled and loose skin on the dorsum of the nose and with difficulty breathing through the nose. This is probably the first such case to be reported in the literature. The defect was reconstructed using conchal and septal cartilage grafting through an external rhinoplasty approach. At the end of the 12-month follow-up period, the patient was found to be satisfied with the functional and aesthetic results of the operation. Bilateral congenital aplasia of nasal lower lateral cartilages is extremely rare. Paediatric rhinoplasty is imperative in such cases.