Prenatal Diagnosis of FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly) with 2D/3D Ultrasonography.
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ABSTRACT:
SUBMITTER: Izadi M
PROVIDER: S-EPMC7561469 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
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Prenatal Diagnosis of FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly) with 2D/3D Ultrasonography.
Izadi Meisam M Salehnia Nasim N
Ultrasound international open 20200901 2
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Project description:IntroductionFibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome is a rare disorder with unknown molecular basis. Since it is a rare disorder, so it is commendable to report the each case, due to its sporadic incidence and paucity of the standardized management protocol for their management.Case reportIt is a case report of newly born male baby, whose anxious parents presented to the outpatient department with a deformity in the left lower limb. This resembled the FATCO syndrome. After clinico-radiological workup, it was categorized as a variant of FATCO syndrome.ConclusionCounseling of parents should be done and let them realize that what is inescapable with this syndrome and what is bound to happen during the treatment.
| S-EPMC8686498 | biostudies-literature
Project description:We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones. The upper limbs were clinically and radiologically normal, and the infant had neither facial dysmorphism nor other associated visceral anomalies. The presented case highlights an extremely rare limb deficiency syndrome, and together with additional case reports, it could be useful to further delineate this condition.
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Project description:Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is enabling the diagnosis of diseases with no previously known genetic cause. Methods: We performed a thorough autopsy on a fetus whose pregnancy was legally terminated due to severe malformations detected by ultrasound. A trio exome was run to identify the genetic cause and risk of recurrence. Previous literature of similar cases was systematically searched. Results: Anatomopathological analyses revealed complete fibular aplasia, shortened and campomelic tibia, absent ankle joint, club right foot and a split foot malformation, leading to the diagnosis of FATCO. Exome sequencing showed that the female fetus carried a de novo nonsense variant in DLX5. The literature search permitted the collection of information on 43 patients with FATCO, the majority of whom were males diagnosed postnatally. In most cases, lower limbs were affected exclusively, but in 39.5% of cases the upper limbs were also affected. Conclusion: The pathologies associated with DLX5 variants encompass a wide spectrum of manifestations ranging from abnormalities exclusively in the hands and feet to long bones such as the tibia and fibula.
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Project description:We report a male infant with FATCO syndrome, an acronym for fibular aplasia, tibial campomelia, and oligosyndactyly. Courtens et al. reported an infant with oligosyndactyly of the left hand, complete absence of the right fibula, bowing of the right tibia, and absence of the right fifth metatarsal and phalanges. They noted 5 patients with similar clinical features, and proposed the FATCO syndrome. Our patient had a left-sided cleft lip, cleft palate, oligosyndactyly of the right hand and bilateral feet, and bilateral anterior bowing of the limbs associated with overlying skin dimpling. Radiographs showed a short angulated tibia with left fibular aplasia and right fibular hypoplasia. We consider our case the 6th patient with FATCO syndrome, and the cleft lip and palate, not reported in the previous 5 patients, may allow us to further understand the development of the extremities and facies.
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Project description:We report a rare limb defect named as fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome in a female monozygotic twin with a normal twin sister, presented with anterior tibia pseudarthrosis, oligosyndactyly, and pes equinovarus. Radiographic examination displayed the absence of left fibulae, anterolateral pseudarthrosis of left tibia, and the absence of some metatarsus and phalangeal bones. Our case report is the first to report that only one of the identical twins was affected by FATCO syndrome, which is a significant finding because the pathogenicity of FATCO syndrome is yet to be identified, and this clinical case may provide a new insight for discovering the etiology of FATCO syndrome.
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Project description:To compare the prenatal diagnostic performance as well as appearance of ultrasonic details between 2-dimensional ultrasonography (2DUS) combined with 3-dimensional ultrasonography (3DUS) and 2DUS alone for hypospadias. A total of 47 fetuses were enrolled and examined by 2DUS and then 3DUS. Postnatal follow-up data were obtained and 28 cases were confirmed of hypospadias. Although not statistically significant, there was a trend toward higher AUC (0.85 vs. 0.76; p = 0.08), ACC (85.1 vs. 76.6%; p = 0.22), SEN (85.7 vs. 78.6%; p = 0.63), and SPE (84.2 vs. 73.7%; p = 0.50) for 2DUS combined with 3DUS compared with 2DUS alone. The agreement between both methods was moderate [kappa = 0.592]. Both modalities showed accurately the short penis and blunt tip of the penis. 2DUS in combination with 3DUS showed more cases in other detailed features, such as "chordee", a "hooded" incomplete prepuce, and so on. Overall 2DUS combined with 3DUS showed a trend toward higher performance compared with 2DUS alone for the diagnosis of hypospadias, although the difference was not statistically significant. 3DUS is a useful complement for 2DUS in the diagnosis of fetal hypospadias and may provide more detailed information related to its diagnosis and prognosis.
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Project description:Prenatal diagnosis of truncus arteriosus with two-dimensional sonography requires expertise in fetal echocardiography. Indeed, truncus arteriosus shares with tetralogy of Fallot and pulmonary atresia with a ventricular septal defect (VSD) the sonographic finding of a single arterial trunk overriding a VSD. The diagnosis of truncus arteriosus can be confirmed when either the main pulmonary artery or its branches are visualized arising from the truncus itself. This requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships. The advantage of multiplanar imaging in three-dimensional and four-dimensional ultrasonography is that it allows for the simultaneous visualization of three orthogonal anatomic planes, which can be very important in diagnosing cardiac abnormalities. We report, first, a case of truncus arteriosus diagnosed in utero where the multiplanar display modality provided important insight into the differential diagnosis of this conotruncal anomaly, and then, review the diagnosis of truncus arteriosus on ultrasound.
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Project description:Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Case A nulliparous woman presented at 13 weeks of gestation for first-trimester aneuploidy screening. On two-dimensional (2D) imaging, she was noted to have a fetus with a shortened right upper limb and a malformed right hand with no clearly visualized digits. The anomaly was then further evaluated with both transabdominal and transvaginal 2D and 3D ultrasonography with postprocessing visualization, revealing absent central digits. Neither the patient nor her husband reported any personal or family history of skeletal or other structural malformations. Discussion Fetal limb abnormalities are being encountered at increasingly earlier gestational ages due to improvements in image quality and expanded use of ultrasound in the first trimester. Early identification of fetal limb malformations without a definitive diagnosis or a clear pattern of inheritance can present a challenging clinical scenario. Patients may opt for earlier termination of pregnancy rather than wait for additional information to guide decision-making.
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