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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Prenatal US features: characterised by central ray deficiencies, it may be associated with syndactyly, aplasia or hypoplasia of the residual phalanges and metacarpals. Hands and feet may be affected. The severity of the malformation is highly variable. Many types of hand and foot malformations, isolated or associated with other abnormalities, can be detected early in pregnancy during evaluation of the fetus between 11 and 14 weeks’ gestation. Reported cases of SHFM diagnosed in the first trimester may or may not be associated with an increased nuchal translucency. High-frequency transvaginal ultrasonography may visualise the hands and feet in the late first trimester, because of a relatively larger amount of amniotic fluid, greater fetal movements and extension of the fingers. However, oligodactyly and oligosyndactyly may be difficult to diagnose by ultrasonography. If the fetal fingers cannot be seen to align normally in an early second-trimester scan, follow-up is indicated. Prenatal diagnosis is easier and earlier in at-risk families. Three-dimensional ultrasound provides additional information in the assessment of fetal hands and feet. In ectrodactyly, bony structures can be evaluated by two-dimensional ultrasound, while three-dimensional ultrasound in transparent view emphasises the spatial relations of the skeleton. Three-dimensional surface rendering is superior to two-dimensional ultrasound for demonstrating cutaneous syndactyly and for further evaluation of the fetal phenotype.
Congenital skeletal abnormalities
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Another group of skeletal anomalies involves limb reduction anomalies which can affect one or more bones and are rarely diagnosed by ultrasound. These anomalies are classified according to the embryonic somatic origin of the limb as amelia, hemimelia, phocomelia, etc. Ultrasonic diagnosis is easier in cases when patients are generally at risk of having a baby with a limb anomaly, e.g., Robert’s syndrome, Fanconi anemia, etc., or when accompanying symptoms are present (Figures 14 to 18). A typical example is sympodia or sirenomelia, which is characterized by symmetrical fusion or soft osseous tissues of the lower extremities. A regular associated anomaly is aplasia of the genito-urinary system, which is responsible for severe oligohydramnios (Figures 19 and 20). However, when oligohydramnios is detected, the fetus should be carefully examined in order to detect possible limb anomalies. Arthrogryposis multiplex is an example of a limb anomaly which can be caused by mechanical intrauterine pressure in cases of severe oligohydramnios. Careful examination of the limbs is indicated, therefore, in all cases of oligohydramnios, regardless of the underlying cause, e.g., urinary tract anomalies, intrauterine growth retardation (IUGR), etc. Minor defects of the hand or foot are actually diagnosed only when the previous baby was malformed, and successful diagnoses of polydactyly, oligodactyly, syndactyly, and split hand and foot have been reported31 (Figures 21 and 22). In evaluating the lower fetal extremities, the presence of clubfoot should also be ruled out. Clubfoot deformity may be an isolated finding or it may be part of a systemic musculoskeletal disorder (e.g., artero-gryposis, muscular dystrophies, diastrophic dwarfism), chromosome abnormality (i.e., trisomy 13), or spinal disraphism (spina bifida/myelomeningocele). To diagnose clubfoot sonographically, the tibia and fibula should be visualized simultaneously in their long axis. In this position, the ankle and foot are normally seen in short axis; however, in the presence of clubfoot, the foot deviates medially and lies at a right angle to the tibia and fibula. To avoid misdiagnosis, this abnormal position of the foot should be confirmed to be constant in subsequent examinations. Obviously, the ultrasonographer may be forgiven for despairing at the range of syndromes that may be present with limb reduction or shortening. It will take many more years to describe the full range of expression in individual skeletal dysplasias because of the relative rarity of these conditions. Significant help can be made by proper radiological and histological examination in the major referral centers. All material terminatedfor skeletal dysplasias should be X-rayed. In doubtful cases, copies of the roentgenograms and a representative unembedded sample of a long bone should be sent to a pathologist with an interest in these disorders.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Renal anomalies occur in approximately 50-80% of patients with VACTERL association [32,33]. The renal abnormality spectrum ranges from renal agenesis to horseshoe kidney and MCDKD, which may be also associated with limb defects such as oligodactyly of the foot [50] (Figures 11 and 12), and crossed renal ectopia may be seen (Figures 13 and 14). In some studies, the most common renal manifestation seen in patients with VACTERL association is renal agenesis [51,52] (Figures 15 and 16). In a cohort study conducted by Cunningham et al. [53], vesicoureteral reflux (VUR) in addition to a structural defect was the most common renal anomaly, followed by renal agenesis. Stenosis of the urethra with an enlarged bladder, resembling lower urinary tract obstruction, can also be observed [54]. Urinary anomalies represent a series of diseases capable of causing major morbidity, some of which can be life-threatening. These anomalies often go unrecognized or overlooked, affecting the child’s growth and the future chance of transplant success [55]. In the postnatal period, examination with a voiding cystourethrogram may be required in cases with VUR [5]. Renal agenesis can be diagnosed using US and/or MRI. Renal agenesis and renal artery absence, hypertrophy of the contralateral kidney on US, and MRI with the ipsilateral adrenal gland “lying-down” in the pelvis are recognized MRI diagnostic clusters [56].
Pseudo-Roberts Syndrome: An Entity or Not?
Published in Fetal and Pediatric Pathology, 2022
Behzad Salari, Louis P. Dehner
Skeletal examination showed phocomelia of four limbs (symmetrically shortened proximal and distal portions of all four limbs; proximal more than distal), micrognathia, hypoplastic ears (right more than left), and oligodactyly of the left hand (4 fingers) and the right foot (4 toes) (Fig. 1). Additionally, a skeletal survey prior to autopsy showed severe mandibular hypoplasia, 11 rib-bearing vertebra, absence of the distal sacrum and most of the right pelvis, and fusion of the lumbosacral junction (Fig. 2).
Topical ketoconazole: a systematic review of current dermatological applications and future developments
Published in Journal of Dermatological Treatment, 2019
Franchesca D. Choi, Margit L.W. Juhasz, Natasha Atanaskova Mesinkovska
Oral KTZ is classified as pregnancy category C (121). Animal studies reported fetal syndactylia and oligodactyly (5). Oral KTZ has been associated with increased androgen production, limb malformation, and hydrops fetalis in humans (122). Currently, literature on the use of topical ketonazole in pregnancy is lacking. However, pharmacodynamic data suggests plasma concentrations are not detectable after application of topical KTZ cream (56,121).