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Bardet−Biedl Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Polydactyly occurs in 68%–81% of BBS patients, including postaxial polydactyly (an extra toe near the fifth “little” toe) as a result of aberrant Shh signaling. Other related features comprise brachydactyly (abnormally short fingers and toes), partial syndactyly (webbing between the second and third toes), fifth-finger clinodactyly (inwardly curved little finger), prominent “sandal gap” (between the first and second toes), and broad feet with a flat arch (Figure 25.1) [25,26].
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Various distinct types of isolated brachydactyly exist, with clinical types now increasingly able to be correlated with specific mutational defects. Inheritance is generally autosomal dominant. Syndrome associations include Albright hereditary osteodystrophy (pseudo- or pseudo-pseudo-hypoparathyroidism), a variable autosomal dominant with endocrine features influenced by genetic imprinting, and Turner syndrome.
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
Radiographic features: there is progressive sclerosis and overgrowth of the skull, facial bones, mandible, vertebrae and pelvic bones. The sutures and fontanelles appear large. There is striking widening and sclerosis of the shafts of the clavicles and ribs. In the hands there is brachydactyly due to short or absent middle phalanges. During childhood there is progressive proximal symphalangism and camptodactyly. The short and long tubular bones show diaphyseal undermodelling and mid-shaft cortical thickening with mild bowing. There is relative metaphyseal and epiphyseal osteopaenia and delayed bone age. With increasing age there is generalised coarsening of the trabecular pattern. Scintigraphy has shown increased uptake of isotope in the sclerotic areas.
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Published in Fetal and Pediatric Pathology, 2023
Priya Ranganath, Vineeth VS, Ikromi Rungsung, Ashwin Dalal, Shagun Aggarwal
A third-degree consanguineously married couple was referred in their fifth pregnancy in view of ultrasound done elsewhere showing increased nuchal translucency. Prenatal scan at our center at 13 weeks 4 days showed intrauterine fetal demise with hydrops and cystic hygroma (Figure 1). Cardiac structure assessment by ultrasound was unsuccessful. The fetus was delivered at 14 weeks and underwent autopsy. Previously, the couple had 2 miscarriages with blighted ovums, a spontaneous abortion at 10 weeks and an intra-uterine fetal demise at 23 weeks for which the cause was not evaluated. The autopsy of the present fetus showed subtle facial dysmorphism in form of prominent supraorbital region, mild hypertelorism, and broad short nose with upturned tip of nose, anteverted nares and micro-retrognathia. There was a large cystic hygroma of the neck extending from occiput to lower lumbar region, generalized subcutaneous edema and pleural effusions. Hands showed brachydactyly and 5th finger clinodactyly (Figure 2a–e).
Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report
Published in Fetal and Pediatric Pathology, 2022
Maria Paola Bonasoni, Giuseppina Comitini, Gabriele Tonni, Silvia Asioli, Veronica Barbieri, Monia Rinaldini, Maria Marinelli
At postmortem, growth parameters were mainly consistent with 17 weeks of gestational age: fetus weighed 345 g and crown-heel length measured 19 cm. Face was slightly dysmorphic with broad forehead, hypertelorism, flattened nose, long phyltrum, faded chin and low-set ears (Fig. 1A). Both feet presented brachydactyly of the 1st, 4th and 5th toes (Fig. 1B). Heart examination revealed a wide ventricular septal defect (VSD), but no other cardiac anomalies. Inferior lobe of left lung was pinkish with a spongy-like appearance. Histological examination showed a CPAM type 3 reminiscent of fetal lung in canalicular stage of development with terminal bronchioles and alveolar ducts (Figs. 2 and 3). Remaining pulmonary parenchyma in other lobes was in pseudoglandular/early canalicular stage of development compatible with 17th week maturation (Fig. 4). Placenta weighed 60 g and histologically villi were edematous with an irregular contour. At postmortem, fetal tissues were sampled and cultured to evaluate distribution of mosaic cells (Table 1). These were predominant in skin, thymus, lungs, and kidneys. Tissue sampling by CPAM also showed a trisomic cell line (Fig. 5). A normal karyotype of 46, XX was obtained from placenta and fetal blood. Samples from heart and liver failed to grow.
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency
Published in Fetal and Pediatric Pathology, 2021
Ceren Damla Durmaz, Şule Altıner, Elifcan Taşdelen, Halil Gürhan Karabulut, Hatice Ilgın Ruhi
17q22 microdeletion syndrome is a contiguous gene syndrome recently described by Laurell et al. [1]. Characteristic features of the syndrome are intellectual disability (ID), attention deficit hyperactivity disorder, facial dysmorphism (microcephaly, narrow long face, maxillary hypoplasia, short philtrum, thin border of upper lip, micrognathia, large bulbous nose, hypoplastic alae nasi, prominent columella, large dysplastic ears, upslanting palpebral fissures, epicantal folds and hypertelorism), conductive hearing loss, visual impairment like astigmatism, hyperopia, strabismus and limb anomalies such as symphalangism, brachydactyly, clinodactyly, short first metacarpal, proximally placed thumbs, coxa valga, genu valgum, and broad halluces [1]. Affected individuals have variable clinical manifestations depending on the deletion sizes.