Congenital malformations of the lung
Prem Puri in Newborn Surgery, 2017
The diagnosis of pulmonary agenesis can often be suggested on prenatal ultrasound. With the addition of color Doppler to demonstrate the absence of the ipsilateral pulmonary artery, definitive diagnosis can be made.69 Kuwashima and Kaji70 have suggested that if prenatal ultrasound is indicative of unilateral pulmonary agenesis, fetal MRI should be performed. If (1) the lung is absent, (2) the ipsilateral main bronchus is absent, (3) the ipsilateral pulmonary artery is absent, (4) the unaffected lung has homogeneous, normal intensity, and (5) the abdominal contents are in the abdomen, the diagnosis of unilateral pulmonary agenesis can be made.70
Empty Renal Fossa
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan in Problem-Based Obstetric Ultrasound, 2019
In general, unilateral agenesis of the kidney carries a good prognosis, provided the contralateral kidney appears to be structurally normal, with a normal bladder and liquor volume. In cases with bilateral agenesis, the outcome is uniformly fatal, regardless of the associated abnormalities. This is due to the lung hypoplasia as a consequence of the lack of amniotic fluid at the critical stage of lung development. In suspected bilateral agenesis, a post-mortem examination is invaluable in making a diagnosis and for predicting recurrence in future pregnancies.
Congenital Disorders of the Larynx, Trachea and Bronchi
John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed in Paediatrics, The Ear, Skull Base, 2018
Agenesis of one main bronchus and its associated lung is not as rare as tracheal agenesis and is compatible with survival, although such children often have coexisting congenital anomalies and are at risk from chest infections because of their much-reduced respiratory reserve. Bilateral bronchial and pulmonary agenesis is extremely rare and is, of course, fatal. Occasionally, localized atresia occurs in a peripheral bronchus, resulting in a distal mucocoele which may need to be resected if it is causing severe compression of the surrounding lung.
Unexpected finding of thyroid hemiagenesis in a patient presenting with a right thyroid nodule and a history of Poland syndrome
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2023
Cheikh Ahmedou Lame, Birame Loum, Peter Mazzaglia, Cheikhna Ndiaye, Thierno Boubacar Diallo, Abibou Ndiaye, Agnes Diouf, Aly Toure
Frequently associated findings include ipsilateral mammary agenesis and syndactyly,2 as in our patient. Thyroid hemiagenesis is an often asymptomatic congenital malformation, in which one thyroid lobe fails to form.8 Most patients are euthyroid.9 The first description was in 1895 by Marshall.3 The pathogenesis of thyroid hemiagenesis remains obscure, most theories suggesting a genetic link, based on familial clusters.10,11 The descent of the thyroid primordium from the primitive pharynx to its eventual location is closely associated with migration of the aortic sac and its branches. Therefore, many theorise that abnormal vascular development is the cause of thyroid hemiagenesis.12,13 Agenesis of the left lobe is most frequent, occurring 68–80% of the time,8 as in our patient.
Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum – case report and literature review
Published in The Journal of Spinal Cord Medicine, 2018
Edyta Szumera, Barbara Jasiewicz, Tomasz Potaczek
Malformations of spine can be caused by abnormalities in cellular differentiation at the early stage of embryofetal development and they lead to either absence or defective structure of respective anatomical structures. The etiology of these deformations remains unknown, although such severe defects are usually induced by harmful factors operating at embryonic period.1 Genetically determined spinal deformities are extremely rare.2,3 Congenital absence of spine / vertebrae is among the most infrequent groups of congenital defects. Most often reported are partial and total sacral agenesis, with the incidence below 0.5%.4 Currently, absence of a sacrum and partial absence of one or more vertebrae cephalad is classified as caudal regression syndrome.5 Despite great variety of defects in this syndrome, spinal malformations are always accompanied by anomalies of the viscera, especially of urogenital system.4,5 It is often associated with neurogenic bladder, which may lead to increased risk of renal impairment caused by recurring urinary tract infections and urinary retention.6,7 Neurological deficits of various severity are often present.
Management of partial vaginal agenesis according to the Wharton-Sheares-George technique – a long-term follow-up
Published in Journal of Obstetrics and Gynaecology, 2020
Xuyin Zhang, Xiaoyan Tang, Yan Ding, Keqin Hua
Surgical treatment was indicated and the main goal was anatomical reconstruction. However, the surgical procedure of partial vaginal agenesis was considered to be controversial, though surgical repair involved several methods (Xie et al. 2017; Kapczuk et al. 2018). It was reported that percutaneous or laparoscopic drainage of hematocolpos was feasible when immediate surgical intervention was not performed or the postoperative complications such as the risk of vaginal stenosis could not be avoided (Dennie et al. 2010). It was recommended that aspiration of accumulated blood should be avoided because an ascending infection was probably caused. Moreover, the bulge of the upper vagina was very beneficial for the guiding of the surgical procedure (Miller and Breech 2008; Breech and Laufer 2009).
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